Functional characterization of 84 PALB2 variants of uncertain significance

PURPOSE: Inherited pathogenic variants in PALB2 are associated with increased risk of breast and pancreatic cancer. However, the functional and clinical relevance of many missense variants of uncertain significance (VUS) identified through clinical genetic testing is unclear. The ability of patient-...

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Detalles Bibliográficos
Autores principales: Wiltshire, Timothy, Ducy, Mandy, Foo, Tzeh Keong, Hu, Chunling, Lee, Kun Y., Belur Nagaraj, Anil, Rodrigue, Amélie, Gomes, Thiago T., Simard, Jacques, Monteiro, Alvaro N. A., Xia, Bing, Carvalho, Marcelo A., Masson, Jean-Yves, Couch, Fergus J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056643/
https://www.ncbi.nlm.nih.gov/pubmed/31636395
http://dx.doi.org/10.1038/s41436-019-0682-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7056643/
https://www.ncbi.nlm.nih.gov/pubmed/31636395
http://dx.doi.org/10.1038/s41436-019-0682-z

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