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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance

Determination of the clinical relevance of rare germline variants of uncertain significance (VUSs) in the BRCA2 cancer predisposition gene remains a challenge as a result of limited availability of data for use in classification models. However, laboratory-based functional data derived from validate...

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Pubblicato in:Am J Hum Genet
Autori principali: Richardson, Marcy E., Hu, Chunling, Lee, Kun Y., LaDuca, Holly, Fulk, Kelly, Durda, Kate M., Deckman, Ashley M., Goldgar, David E., Monteiro, Alvaro N.A., Gnanaolivu, Rohan, Hart, Steven N., Polley, Eric C., Chao, Elizabeth, Pesaran, Tina, Couch, Fergus J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2021
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8008494/
https://ncbi.nlm.nih.gov/pubmed/33609447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2021.02.005
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