Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

Interpreting variants of uncertain significance (VUS) is a central challenge in medical genetics. One approach is to experimentally measure the functional consequences of VUS, but to date this approach has been post hoc and low throughput. Here we use massively parallel assays to measure the effects...

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Dades bibliogràfiques
Publicat a:Genetics
Autors principals: Starita, Lea M., Young, David L., Islam, Muhtadi, Kitzman, Jacob O., Gullingsrud, Justin, Hause, Ronald J., Fowler, Douglas M., Parvin, Jeffrey D., Shendure, Jay, Fields, Stanley
Format: Artigo
Idioma:Inglês
Publicat: Genetics Society of America 2015
Matèries:
Communications
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4492368/
https://ncbi.nlm.nih.gov/pubmed/25823446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/genetics.115.175802
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