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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Publicat a:Hum Mutat
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2018
Matèries:
Article
Accés en línia: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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