Article

Algorithmic Assessment of Missense Mutation Severity in the Von-Hippel Lindau Protein

2020-05-20

Abstract excerpt

Von Hippel-Lindau disease (VHL) is an autosomal dominant rare disease that causes the formation of angiogenic tumors. When functional, pVHL acts as an E3 ubiquitin ligase that negatively regulates hypoxia inducible factor (HIF). Genetic mutations that perturb the structure of pVHL result in dysregulation of HIF, causing a wide array of tumor pathologies including retinal angioma, pheochromocytoma, central nervous...

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Literature Corpus work: ec4e8c4f-c88f-51a6-8510-3e66a5df6eef
DOI: 10.1101/2020.05.20.106021

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