Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture

Autor: Shay Ben-Shachar, Deeann Wallis, Ofer Isakov, D. Gareth Evans

Publikováno v: Isakov, O, Wallis, D, Evans, D G & Ben-shachar, S 2018, ' Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture ', EBioMedicine, vol. 36 . https://doi.org/10.1016/j.ebiom.2018.09.039
EBioMedicine

Background Neurofibromatosis type I (NF1) is caused by heterozygous loss-of-function variants in the NF1 gene encoding neurofibromin which serves as a tumor suppressor that inhibits RAS signaling and regulates cell proliferation and differentiation.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82854d153e0aebf0fdf4276732ba418c
https://doi.org/10.1016/j.ebiom.2018.09.039