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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 |
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| Autori principali: | , , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2021
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| Soggetti: | |
| 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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