Whole ‐exome sequencing and immunohistochemistry findings in von Hippel–Lindau disease

ConclusionExcept for a SNV in theVHL gene, no other somatic SNVs were detected using WES. The phospho ‐S6 ribosomal protein in the mTOR pathway is a potential target in VHL‐related cerebellum hemangioblastomas.

Source: Molecular Genetics & Genomic Medicine - July 16, 2019 Category: Genetics & Stem Cells Authors: Xiaopeng Guo, Lu Gao, Xiafei Hong, Dan Guo, Wenyu Di, Xiaoman Wang, Zhiqin Xu, Bing Xing Tags: ORIGINAL ARTICLE Source Type: research