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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...
Gardado en:
| Publicado en: | NPJ Genom Med |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Nature Publishing Group UK
2020
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| Assuntos: | |
| Acceso en liña: | 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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