ClinVar database of global familial hypercholesterolemia-associated DNA variants

Accurate and consistent variant classification is imperative for incorporation of rapidly developing sequencing technologies into genomic medicine for improved patient care. An essential requirement for achieving standardized and reliable variant interpretation is data sharing, facilitated by a cent...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Iacocca, Michael A., Chora, Joana R., Carrie, Alain, Freiberger, Tomas, Leigh, Sarah E., Defesche, Joep C., Kurtz, C. Lisa, DiStefano, Marina T., Santos, Raul, Humphries, Steve E., Mata, Pedro, Jannes, Cinthia, Hooper, Amanda J., Wilemon, Katherine A., Benlian, Pascale, O’Connor, Robert, Garcia, John, Wand, Hannah, Tichy, Lukas, Sijbrands, Eric J., Hegele, Robert A., Bourbon, Mafalda, Knowles, Joshua W.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6206854/
https://ncbi.nlm.nih.gov/pubmed/30311388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23634
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