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Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals

It is now affordable to order clinically interpreted whole genome sequence reports from clinical laboratories. One major component of these reports is derived from the knowledge base of previously identified pathogenic variants, including research articles, locus specific and other databases. While...

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Detalhes bibliográficos
Main Authors: Cassa, Christopher A., Tong, Mark Y., Jordan, Daniel M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3786140/
https://ncbi.nlm.nih.gov/pubmed/23818451
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22375
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