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Overview of specifications to the ACMG/AMP variant interpretation guidelines
The 2015 ACMG/AMP guidelines established a classification system for sequence variants; however, the broad scope of these guidelines necessitates specification of evidence types for specific genes or diseases of interest. Since publication of the guidelines, both general use and disease-focused spec...
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| Publié dans: | Curr Protoc Hum Genet |
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| Auteurs principaux: | , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6885382/ https://ncbi.nlm.nih.gov/pubmed/31479589 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/cphg.93 |
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