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
Autores principales: Landrum, Melissa J., Lee, Jennifer M., Riley, George R., Jang, Wonhee, Rubinstein, Wendy S., Church, Deanna M., Maglott, Donna R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
VI. Genomic variation, diseases and drugs
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

Internet

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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