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2. The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas. Trevisson E; Morbidoni V; Forzan M; Daolio C; Fumini V; Parrozzani R; Cassina M; Midena E; Salviati L; Clementi M Mol Genet Genomic Med; 2019 May; 7(5):e616. PubMed ID: 30843352 [TBL] [Abstract][Full Text] [Related]
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6. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Upadhyaya M; Huson SM; Davies M; Thomas N; Chuzhanova N; Giovannini S; Evans DG; Howard E; Kerr B; Griffiths S; Consoli C; Side L; Adams D; Pierpont M; Hachen R; Barnicoat A; Li H; Wallace P; Van Biervliet JP; Stevenson D; Viskochil D; Baralle D; Haan E; Riccardi V; Turnpenny P; Lazaro C; Messiaen L Am J Hum Genet; 2007 Jan; 80(1):140-51. PubMed ID: 17160901 [TBL] [Abstract][Full Text] [Related]
7. Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1). Szudek J; Joe H; Friedman JM Genet Epidemiol; 2002 Aug; 23(2):150-64. PubMed ID: 12214308 [TBL] [Abstract][Full Text] [Related]
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