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: 21155825, "link" : "/api/reference/21155825", "label" : "1. Abramowicz 2014: Neurofibromin in neurofibromatosis type 1 – mutations in NF1gene as a cause of disease., Dev. Period Med., 18, p. 297", "listPosition" : 1, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155826, "link" : "/api/reference/21155826", "label" : "2. Allanson 2009: Elements of morphology: standard terminology for the head and face., Am. J. Med. Genet. A, p. 6, DOI: 10.1002/ajmg.a.32612", "listPosition" : 2, "doi" : "10.1002/ajmg.a.32612", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155827, "link" : "/api/reference/21155827", "label" : "3. Bass 1989: A budapesti binet-teszttel végzett vizsgálatokról, A Differenciált Beiskolázás Néhány Mérõeszköze, p. 29", "listPosition" : 3, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155828, "link" : "/api/reference/21155828", "label" : "4. Bayley 2006: Bayley Scales of Infant and Toddler Development: Bayley-III., 7", "listPosition" : 4, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155829, "link" : "/api/reference/21155829", "label" : "5. Bell 2011: Predisposition to cancer caused by genetic and functional defects of mammalian Atad5., PLoS Genet., 7, DOI: 10.1371/journal.pgen.1002245", "listPosition" : 5, "doi" : "10.1371/journal.pgen.1002245", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155830, "link" : "/api/reference/21155830", "label" : "6. Bengesser 2010: A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2., Hum. Mutat., 31, p. 742, DOI: 10.1002/humu.21254", "listPosition" : 6, "doi" : "10.1002/humu.21254", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155831, "link" : "/api/reference/21155831", "label" : "7. Bernardinelli 2014: Structural plasticity: mechanisms and contribution to developmental psychiatric disorders., Front. Neuroanat., 8, DOI: 10.3389/fnana.2014.00123", "listPosition" : 7, "doi" : "10.3389/fnana.2014.00123", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155832, "link" : "/api/reference/21155832", "label" : "8. Bianchessi 2015: 126 novel mutations in Italian patients with neurofibromatosis type 1., Mol. Genet. Genomic Med., 3, p. 513, DOI: 10.1002/mgg3.161", "listPosition" : 8, "doi" : "10.1002/mgg3.161", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155833, "link" : "/api/reference/21155833", "label" : "9. Cnossen 1998: A prospective 10 year follow up study of patients with neurofibromatosis type 1., Arch. Dis. Child, 78, p. 408, DOI: 10.1136/adc.78.5.408", "listPosition" : 9, "doi" : "10.1136/adc.78.5.408", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155834, "link" : "/api/reference/21155834", "label" : "10. Cnossen 1997: Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?, Hum. Mutat., 9, p. 458, DOI: 10.1002/(SICI)1098-100419979:5<458::AID-HUMU13<3.0.CO;2-1", "listPosition" : 10, "doi" : "10.1002/(SICI)1098-100419979:5<458::AID-HUMU13<3.0.CO;2-1", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155835, "link" : "/api/reference/21155835", "label" : "11. Descheemaeker 2004: Intelligence in individuals with a neurofibromatosis type 1 microdeletion., Am. J. Med. Genet. A, 131, p. 325, DOI: 10.1002/ajmg.a.30346", "listPosition" : 11, "doi" : "10.1002/ajmg.a.30346", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155836, "link" : "/api/reference/21155836", "label" : "12. Dorschner 2000: NF1 microdeletion breakpoints are clustered at flanking repetitive sequences., Hum. Mol. Genet., 9, p. 35, DOI: 10.1093/hmg/9.1.35", "listPosition" : 12, "doi" : "10.1093/hmg/9.1.35", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155837, "link" : "/api/reference/21155837", "label" : "13. Firth 2009: DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources., Am. J. Hum. Genet., 84, p. 524, DOI: 10.1016/j.ajhg.2009.03.010", "listPosition" : 13, "doi" : "10.1016/j.ajhg.2009.03.010", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155838, "link" : "/api/reference/21155838", "label" : "14. Hall 2009: Elements of morphology: standard terminology for the periorbital region., Am. J. Med. Genet. A, p. 29, DOI: 10.1002/ajmg.a.32597", "listPosition" : 14, "doi" : "10.1002/ajmg.a.32597", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155839, "link" : "/api/reference/21155839", "label" : "15. Hillmer 2016: Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions., Hum. Mol. Genet., 25, p. 484, DOI: 10.1093/hmg/ddv487", "listPosition" : 15, "doi" : "10.1093/hmg/ddv487", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155840, "link" : "/api/reference/21155840", "label" : "16. Huson 1994: The Neurofibromatoses: A Pathogenetic and Clinical Overview.", "listPosition" : 16, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155841, "link" : "/api/reference/21155841", "label" : "17. Jenne 2001: Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions., Am. J. Hum. Genet., 69, p. 516, DOI: 10.1086/323043", "listPosition" : 17, "doi" : "10.1086/323043", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155842, "link" : "/api/reference/21155842", "label" : "18. Jett 2010: Clinical and genetic aspects of neurofibromatosis 1., Genet. Med., 12, p. 1, DOI: 10.1097/GIM.0b013e3181bf15e3", "listPosition" : 18, "doi" : "10.1097/GIM.0b013e3181bf15e3", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155843, "link" : "/api/reference/21155843", "label" : "19. Karczewski 2020: The mutational constraint spectrum quantified from variation in 141,456 humans., Nature, 581, p. 434, DOI: 10.1038/s41586-020-2308-7", "listPosition" : 19, "doi" : "10.1038/s41586-020-2308-7", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155844, "link" : "/api/reference/21155844", "label" : "20. Kayes 1992: Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism., J. Med. Genet., 29, p. 686, DOI: 10.1136/jmg.29.10.686", "listPosition" : 20, "doi" : "10.1136/jmg.29.10.686", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155845, "link" : "/api/reference/21155845", "label" : "21. Kayes 1994: Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients., Am. J. Hum. Genet., 54, p. 424", "listPosition" : 21, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155846, "link" : "/api/reference/21155846", "label" : "22. Kehrer-Sawatzki 2005: Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2., Hum. Genet., 116, p. 466, DOI: 10.1007/s00439-005-1265-4", "listPosition" : 22, "doi" : "10.1007/s00439-005-1265-4", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155847, "link" : "/api/reference/21155847", "label" : "23. Kehrer-Sawatzki 2020: Clinical characterization of children and adolescents with NF1 microdeletions., Childs Nerv. Syst., 36, p. 2297, DOI: 10.1007/s00381-020-04717-0", "listPosition" : 23, "doi" : "10.1007/s00381-020-04717-0", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155848, "link" : "/api/reference/21155848", "label" : "24. Kehrer-Sawatzki 2004: High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene., Am. J. Hum. Genet., 75, p. 410, DOI: 10.1086/423624", "listPosition" : 24, "doi" : "10.1086/423624", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155849, "link" : "/api/reference/21155849", "label" : "25. Kehrer-Sawatzki 2017: Emerging genotype-phenotype relationships in patients with large NF1 deletions., Hum. Genet., 136, p. 349, DOI: 10.1007/s00439-017-1766-y", "listPosition" : 25, "doi" : "10.1007/s00439-017-1766-y", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155850, "link" : "/api/reference/21155850", "label" : "26. Kehrer-Sawatzki 2008: Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted region., Am. J. Med. Genet. A, p. 691, DOI: 10.1002/ajmg.a.32045", "listPosition" : 26, "doi" : "10.1002/ajmg.a.32045", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155851, "link" : "/api/reference/21155851", "label" : "27. Kehrer-Sawatzki 2003: Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region., J. Med. Genet., 40, DOI: 10.1136/jmg.40.10.e116", "listPosition" : 27, "doi" : "10.1136/jmg.40.10.e116", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155852, "link" : "/api/reference/21155852", "label" : "28. Kluwe 2004: Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene., Hum. Mutat., 23, p. 111, DOI: 10.1002/humu.10299", "listPosition" : 28, "doi" : "10.1002/humu.10299", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155853, "link" : "/api/reference/21155853", "label" : "29. Lammert 2005: Prevalence of neurofibromatosis 1 in German children at elementary school enrollment., Arch. Dermatol., 141, p. 71, DOI: 10.1001/archderm.141.1.71", "listPosition" : 29, "doi" : "10.1001/archderm.141.1.71", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155854, "link" : "/api/reference/21155854", "label" : "30. Lopez-Correa 2001: Recombination hotspot in NF1 microdeletion patients., Hum. Mol. Genet., 10, p. 1387, DOI: 10.1093/hmg/10.13.1387", "listPosition" : 30, "doi" : "10.1093/hmg/10.13.1387", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155855, "link" : "/api/reference/21155855", "label" : "31. Mantripragada 2006: Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH., J. Med. Genet., 43, p. 28, DOI: 10.1136/jmg.2005.033795", "listPosition" : 31, "doi" : "10.1136/jmg.2005.033795", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155856, "link" : "/api/reference/21155856", "label" : "32. Martin 2009: Effect of the oligodendrocyte myelin glycoprotein (OMgp) on the expansion and neuronal differentiation of rat neural stem cells., Brain Res., 1284, p. 22, DOI: 10.1016/j.brainres.2009.05.070", "listPosition" : 32, "doi" : "10.1016/j.brainres.2009.05.070", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155857, "link" : "/api/reference/21155857", "label" : "33. Mautner 2010: Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions., J. Med. Genet., 47, p. 623, DOI: 10.1136/jmg.2009.075937", "listPosition" : 33, "doi" : "10.1136/jmg.2009.075937", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155858, "link" : "/api/reference/21155858", "label" : "34. Mensink 2006: Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature., J. Med. Genet., 43, DOI: 10.1136/jmg.2005.034256", "listPosition" : 34, "doi" : "10.1136/jmg.2005.034256", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155859, "link" : "/api/reference/21155859", "label" : "35. Messiaen 2011: Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)., Hum. Mutat., 32, p. 213, DOI: 10.1002/humu.21418", "listPosition" : 35, "doi" : "10.1002/humu.21418", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155860, "link" : "/api/reference/21155860", "label" : "36. Neuhausler 2018: Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions., Hum. Genet., 137, p. 365, DOI: 10.1007/s00439-018-1888-x", "listPosition" : 36, "doi" : "10.1007/s00439-018-1888-x", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155861, "link" : "/api/reference/21155861", "label" : "37. Ottenhoff 2020: Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1., Genet. Med., 22, p. 889, DOI: 10.1038/s41436-020-0752-2", "listPosition" : 37, "doi" : "10.1038/s41436-020-0752-2", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155862, "link" : "/api/reference/21155862", "label" : "38. Park 1998: Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients., J. Med. Genet., 35, p. 813, DOI: 10.1136/jmg.35.10.813", "listPosition" : 38, "doi" : "10.1136/jmg.35.10.813", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155863, "link" : "/api/reference/21155863", "label" : "39. Pasmant 2010: NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype., Hum. Mutat., 31, p. E1506, DOI: 10.1002/humu.21271", "listPosition" : 39, "doi" : "10.1002/humu.21271", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155864, "link" : "/api/reference/21155864", "label" : "40. Riva 2000: NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes., Am. J. Hum. Genet., 66, p. 100, DOI: 10.1086/302709", "listPosition" : 40, "doi" : "10.1086/302709", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155865, "link" : "/api/reference/21155865", "label" : "41. Roehl 2010: Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions., Hum. Mutat., 31, p. 1163, DOI: 10.1002/humu.21340", "listPosition" : 41, "doi" : "10.1002/humu.21340", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155866, "link" : "/api/reference/21155866", "label" : "42. Steinmann 2008: Copy number variations in the NF1 gene region are infrequent and do not predispose to recurrent type-1 deletions., Eur. J. Hum. Genet., 16, p. 572, DOI: 10.1038/sj.ejhg.5202002", "listPosition" : 42, "doi" : "10.1038/sj.ejhg.5202002", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155867, "link" : "/api/reference/21155867", "label" : "43. Stephens 1992: Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes., Hum. Genet., 88, p. 279, DOI: 10.1007/BF00197259", "listPosition" : 43, "doi" : "10.1007/BF00197259", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155868, "link" : "/api/reference/21155868", "label" : "44. Strassmeier 1980: Early intervention programs for handicapped and retarded children from age 0 to 5., Int. J. Rehabil. Res., 3, p. 533, DOI: 10.1097/00004356-198012000-00009", "listPosition" : 44, "doi" : "10.1097/00004356-198012000-00009", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155869, "link" : "/api/reference/21155869", "label" : "45. Summerer 2018: Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences., Hum. Genet., 137, p. 511, DOI: 10.1007/s00439-018-1904-1", "listPosition" : 45, "doi" : "10.1007/s00439-018-1904-1", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155870, "link" : "/api/reference/21155870", "label" : "46. Summerer 2019: Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions., Hum. Genet., 138, p. 73, DOI: 10.1007/s00439-018-1961-5", "listPosition" : 46, "doi" : "10.1007/s00439-018-1961-5", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155871, "link" : "/api/reference/21155871", "label" : "47. Tastet 2015: Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism., Psychiatr. Genet., 25, p. 263, DOI: 10.1097/YPG.0000000000000100", "listPosition" : 47, "doi" : "10.1097/YPG.0000000000000100", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155872, "link" : "/api/reference/21155872", "label" : "48. Tucker 2005: Association between benign and malignant peripheral nerve sheath tumors in NF1., Neurology, 65, p. 205, DOI: 10.1212/01.wnl.0000168830.79997.13", "listPosition" : 48, "doi" : "10.1212/01.wnl.0000168830.79997.13", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155873, "link" : "/api/reference/21155873", "label" : "49. Upadhyaya 1996: A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay., J. Med. Genet., 33, p. 148, DOI: 10.1136/jmg.33.2.148", "listPosition" : 49, "doi" : "10.1136/jmg.33.2.148", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155874, "link" : "/api/reference/21155874", "label" : "50. Uusitalo 2015: Incidence and mortality of neurofibromatosis: a total population study in Finland., J. Invest. Dermatol., 135, p. 904, DOI: 10.1038/jid.2014.465", "listPosition" : 50, "doi" : "10.1038/jid.2014.465", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155875, "link" : "/api/reference/21155875", "label" : "51. Venturin 2014: ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome., J. Med. Genet., 51, p. 436, DOI: 10.1136/jmedgenet-2013-102240", "listPosition" : 51, "doi" : "10.1136/jmedgenet-2013-102240", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155876, "link" : "/api/reference/21155876", "label" : "52. Venturin : Evidence for non-homologous end joining and non-allelic homologous recombination in atypical NF1 microdeletions., Hum. Genet., 115, p. 69, DOI: 10.1007/s00439-004-1101-2", "listPosition" : 52, "doi" : "10.1007/s00439-004-1101-2", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155877, "link" : "/api/reference/21155877", "label" : "53. Venturin : Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2., J. Med. Genet., 41, p. 35, DOI: 10.1136/jmg.2003.014761", "listPosition" : 53, "doi" : "10.1136/jmg.2003.014761", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155878, "link" : "/api/reference/21155878", "label" : "54. Viskochil 1990: Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus., Cell, 62, p. 187, DOI: 10.1016/0092-8674(90)90252-a", "listPosition" : 54, "doi" : "10.1016/0092-8674(90)90252-a", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155879, "link" : "/api/reference/21155879", "label" : "55. Vogt 2014: SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints., Genome Biol., 15, DOI: 10.1186/gb-2014-15-6-r80", "listPosition" : 55, "doi" : "10.1186/gb-2014-15-6-r80", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155880, "link" : "/api/reference/21155880", "label" : "56. Vogt 2012: Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder., Hum. Mutat., 33, p. 1599, DOI: 10.1002/humu.22171", "listPosition" : 56, "doi" : "10.1002/humu.22171", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155881, "link" : "/api/reference/21155881", "label" : "57. Vogt 2011: Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports., J. Med. Case Rep., 5, DOI: 10.1186/1752-1947-5-577", "listPosition" : 57, "doi" : "10.1186/1752-1947-5-577", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155882, "link" : "/api/reference/21155882", "label" : "58. Vulto-van Silfhout 2013: An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations., Eur. J. Med. Genet., 56, p. 471, DOI: 10.1016/j.ejmg.2013.06.010", "listPosition" : 58, "doi" : "10.1016/j.ejmg.2013.06.010", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155883, "link" : "/api/reference/21155883", "label" : "59. Waggoner 2000: Clinic-based study of plexiform neurofibromas in neurofibromatosis 1., Am. J. Med. Genet., 92, p. 132, DOI: 10.1002/(SICI)1096-8628(20000515)92:2<132::AID-AJMG10>3.0.CO;2-6", "listPosition" : 59, "doi" : "10.1002/(SICI)1096-8628(20000515)92:2<132::AID-AJMG10>3.0.CO;2-6", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155884, "link" : "/api/reference/21155884", "label" : "60. Zhang 2015: Molecular characterization of NF1 and neurofibromatosis type 1 genotype-phenotype correlations in a Chinese population., Sci. Rep., 5, DOI: 10.1038/srep11291", "listPosition" : 60, "doi" : "10.1038/srep11291", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155885, "link" : "/api/reference/21155885", "label" : "61. Zhang 2014: Somatic mutations of SUZ12 in malignant peripheral nerve sheath tumors., Nat. Genet., 46, p. 1170, DOI: 10.1038/ng.3116", "listPosition" : 61, "doi" : "10.1038/ng.3116", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 21155886, "link" : "/api/reference/21155886", "label" : "62. Zickler 2012: Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions., Hum. Mutat., 33, p. 372, DOI: 10.1002/humu.21644", "listPosition" : 62, "doi" : "10.1002/humu.21644", "published" : false, "snippet" : true } ], "hasCitationDuplums" : false, "inSelectedPubs" : "10015867,10025529", "userChangeableUntil" : "2021-06-07T13:27:35.187+0000", "directInstitutesForSort" : "I. Sz. Gyermekgyógyászati Klinika (SE / AOK / K); II. Sz. 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