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...

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Detalles Bibliográficos
Main Authors: Landrum, Melissa J., Lee, Jennifer M., Riley, George R., Jang, Wonhee, Rubinstein, Wendy S., Church, Deanna M., Maglott, Donna R.
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2014
Assuntos:
VI. Genomic variation, diseases and drugs
Acceso en liña: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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