Prospective functional classification of all possible missense variants in PPARG

Clinical exome sequencing routinely identifies missense variants in disease-related genes, but functional characterization is rarely undertaken, leading to diagnostic uncertainty1,2. For example, mutations in PPARG cause Mendelian lipodystrophy3,4 and increase risk of type 2 diabetes (T2D)5. While a...

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Detaylı Bibliyografya
Yayımlandı:Nat Genet
Asıl Yazarlar: Majithia, Amit R., Tsuda, Ben, Agostini, Maura, Gnanapradeepan, Keerthana, Rice, Robert, Peloso, Gina, Patel, Kashyap A., Zhang, Xiaolan, Broekema, Marjoleine F., Patterson, Nick, Duby, Marc, Sharpe, Ted, Kalkhoven, Eric, Rosen, Evan D., Barroso, Inês, Ellard, Sian, Kathiresan, Sekar, O’Rahilly, Stephen, Chatterjee, Krishna, Florez, Jose C., Mikkelsen, Tarjei, Savage, David B., Altshuler, David
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2016
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5131844/
https://ncbi.nlm.nih.gov/pubmed/27749844
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3700
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