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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678838/
https://www.ncbi.nlm.nih.gov/pubmed/33240524
http://dx.doi.org/10.1038/s41525-020-00157-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7678838/
https://www.ncbi.nlm.nih.gov/pubmed/33240524
http://dx.doi.org/10.1038/s41525-020-00157-6

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