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...

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發表在:NPJ Genom Med
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Nature Publishing Group UK 2020
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Article
在線閱讀: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
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