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

BACKGROUND: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by inactivating mutations of the NF1 gene. The wide allelic heterogeneity of this condition, with more than 3,000 pathogenic variants reported so far, is paralleled by its high clinical variability, which is observe...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Genomic Med
Asıl Yazarlar: Trevisson, Eva, Morbidoni, Valeria, Forzan, Monica, Daolio, Cecilia, Fumini, Valentina, Parrozzani, Raffaele, Cassina, Matteo, Midena, Edoardo, Salviati, Leonardo, Clementi, Maurizio
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2019
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6503065/
https://ncbi.nlm.nih.gov/pubmed/30843352
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.616
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