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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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Bibliografiske detaljer
Udgivet i:Curr Protoc Hum Genet
Main Authors: 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
Sprog:Inglês
Udgivet: 2016
Fag:
Online adgang: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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