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Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”
PURPOSE: Guidelines for variant interpretation incorporate variant hotspots in critical functional domains as evidence for pathogenicity (e.g., PM1 and PP2), but do not use “coldspots,” that is, regions without essential functions that tolerate variation, as evidence a variant is benign. To improve...
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| Publicat a: | Genet Med |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group US
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7200594/ https://ncbi.nlm.nih.gov/pubmed/31911673 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0740-6 |
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