Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein

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 dysregul...

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Detalles Bibliográficos
Autores principales: Fields, Francisco R., Suresh, Niraja, Hiller, Morgan, Freed, Stefan D., Haldar, Kasturi, Lee, Shaun W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7644048/
https://www.ncbi.nlm.nih.gov/pubmed/33151962
http://dx.doi.org/10.1371/journal.pone.0234100

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