Siao Ting Chong on Muck Rack

Siao Ting Chong

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Articles

Functional characterisation guides classification of novel BAP1 germline variants

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By Sock Hoai Chan, Joanne Ngeow, Siao Ting Chong, Po-Hsien Lee
| Nature Verified
Abstract 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.
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