Whole-exome sequencing and immunohistochemistry findings in von Hippel-Lindau disease.

Xiaopeng GuoLu GaoXiafei HongDan GuoWenyu DiXiaoman WangZhiqin XuBing Xing

Published in: Molecular genetics & genomic medicine (2019)

Except for a SNV in the VHL 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.

Keyphrases

copy number
genome wide
cell proliferation
protein protein
amino acid
binding protein
genome wide identification
gene expression
small molecule
dna methylation
transcription factor