High-throughput functional evaluation of BRCA2 variants of unknown significance

Numerous nontruncating missense variants of the BRCA2 gene have been identified, but there is a lack of convincing evidence, such as familial data, demonstrating their clinical relevance and they thus remain unactionable. To assess the pathogenicity of variants of unknown significance (VUSs) within...

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Detalhes bibliográficos
Publicado no:Nat Commun
Main Authors: Ikegami, Masachika, Kohsaka, Shinji, Ueno, Toshihide, Momozawa, Yukihide, Inoue, Satoshi, Tamura, Kenji, Shimomura, Akihiko, Hosoya, Noriko, Kobayashi, Hiroshi, Tanaka, Sakae, Mano, Hiroyuki
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7244490/
https://ncbi.nlm.nih.gov/pubmed/32444794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-16141-8
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