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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...
Autores principales: | Landrum, Melissa J., Lee, Jennifer M., Riley, George R., Jang, Wonhee, Rubinstein, Wendy S., Church, Deanna M., Maglott, Donna R. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965032/ https://www.ncbi.nlm.nih.gov/pubmed/24234437 http://dx.doi.org/10.1093/nar/gkt1113 |
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