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Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
BACKGROUND: The 2015 American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that “well-established” functional studies can be used as evidence in variant classification. These guidelines...
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| Pubblicato in: | Genome Med |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6884856/ https://ncbi.nlm.nih.gov/pubmed/31783775 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-019-0683-1 |
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