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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Nat Commun
मुख्य लेखकों: Ikegami, Masachika, Kohsaka, Shinji, Ueno, Toshihide, Momozawa, Yukihide, Inoue, Satoshi, Tamura, Kenji, Shimomura, Akihiko, Hosoya, Noriko, Kobayashi, Hiroshi, Tanaka, Sakae, Mano, Hiroyuki
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Nature Publishing Group UK 2020
विषय:
Article
ऑनलाइन पहुंच: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
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन