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Using ClinVar as a Resource to Support Variant Interpretations

ClinVar is a freely accessible, public archive of reports of the relationships among genomic variants and phenotypes. To facilitate evaluation of the clinical significance of each variant, ClinVar aggregates submissions of the same variant, displays supporting data from each submission, and determin...

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Dades bibliogràfiques
Publicat a:Curr Protoc Hum Genet
Autors principals: Harrison, Steven M., Riggs, Erin R., Maglott, Donna R., Lee, Jennifer M., Azzariti, Danielle R., Niehaus, Annie, Ramos, Erin M., Martin, Christa L., Landrum, Melissa J., Rehm, Heidi L.
Format: Artigo
Idioma:Inglês
Publicat: 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4832236/
https://ncbi.nlm.nih.gov/pubmed/27037489
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/0471142905.hg0816s89
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