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ClinVar: improving access to variant interpretations and supporting evidence

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0 Published in 2018 at "Nucleic Acids Research"

DOI: 10.1093/nar/gkx1153

Abstract: Abstract ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations of their significance to disease, maintained at the National Institutes of Health. Interpretations of the clinical significance of variants are… read more here.

Keywords: interpretations supporting; improving access; variant interpretations; clinvar improving ... See more keywords