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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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| Gepubliceerd in: | PLoS One |
|---|---|
| Hoofdauteurs: | , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Public Library of Science
2020
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7644048/ https://ncbi.nlm.nih.gov/pubmed/33151962 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0234100 |
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