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ClinVar: public archive of relationships among sequence variation and human phenotype

ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) provides a freely available archive of reports of relationships among medically important variants and phenotypes. ClinVar accessions submissions reporting human variation, interpretations of the relationship of that variation to human health and the ev...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Landrum, Melissa J., Lee, Jennifer M., Riley, George R., Jang, Wonhee, Rubinstein, Wendy S., Church, Deanna M., Maglott, Donna R.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2014
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3965032/
https://ncbi.nlm.nih.gov/pubmed/24234437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkt1113
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