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Sources of discordance among germ-line variant classifications in ClinVar
PURPOSE: ClinVar is increasingly used as a resource for both genetic variant interpretation and clinical practice. However, controversies exist regarding the consistency of classifications in ClinVar, and questions remain about how best to use these data. Our study systematically examined ClinVar to...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5632819/ https://www.ncbi.nlm.nih.gov/pubmed/28569743 http://dx.doi.org/10.1038/gim.2017.60 |