Case report: a synonymous VHL mutation (c.414A   >  G, p.Pro138Pro) causes pathogenic familial hemangioblastoma through dysregulated splicing

von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations include deletion, frameshift, nonsense and missense mutations. Synonymous ...

Source: BMC Medical Genetics - February 27, 2020 Category: Genetics & Stem Cells Authors: Fang Liu, Barbara Calhoun, Md. Suhail Alam, Miaomiao Sun, Xuechun Wang, Chao Zhang, Kasturi Haldar and Xin Lu Tags: Case report Source Type: research