Functional characterisation guides classification of novel BAP1 germline variants

We have identified six patients harbouring distinct germline BAP1 mutations. In this study, we functionally characterise known BAP1 pathogenic and likely benign germline variants out of these six patients to aid in the evaluation and classification of unknown BAP1 germline variants. We found that pa...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:NPJ Genom Med
Asıl Yazarlar: Hong, Jing Han, Chong, Siao Ting, Lee, Po-Hsien, Tan, Jing, Heng, Hong Lee, Ishak, Nur Diana Binte, Chan, Sock Hoai, Teh, Bin Tean, Ngeow, Joanne
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group UK 2020
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7678838/
https://ncbi.nlm.nih.gov/pubmed/33240524
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-020-00157-6
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller