The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas

ConclusionOur data support the correlation of the p.Arg1038Gly missense substitution with the cutaneous phenotype without neurofibromas or other complications. This finding may have relevant implications for patients and genetic counseling, but also to get insights into the function of neurofibromin.

Source: Molecular Genetics & Genomic Medicine - March 5, 2019 Category: Genetics & Stem Cells Authors: Eva Trevisson, Valeria Morbidoni, Monica Forzan, Cecilia Daolio, Valentina Fumini, Raffaele Parrozzani, Matteo Cassina, Edoardo Midena, Leonardo Salviati, Maurizio Clementi Tags: ORIGINAL ARTICLE Source Type: research