Associated Genetic Biomarkers
VHL X155_splice is present in 0.04% of AACR GENIE cases, with clear cell renal cell carcinoma, renal cell carcinoma, renal clear cell carcinoma with sarcomatoid features, central nervous system hemangioblastoma, and kidney medullary carcinoma having the greatest prevalence .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
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Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.
4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.