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Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels

An approach to understand quantitative traits was recently proposed based on the finding that nonsynonymous (NS) sequence variants in certain genes are preferentially enriched at one extreme of the population distribution. The NS variants, although individually rare, are cumulatively frequent and in...

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Autors principals: Cohen, Jonathan C., Pertsemlidis, Alexander, Fahmi, Saleemah, Esmail, Sophie, Vega, Gloria L., Grundy, Scott M., Hobbs, Helen H.
Format: Artigo
Idioma:Inglês
Publicat: National Academy of Sciences 2006
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1413637/
https://ncbi.nlm.nih.gov/pubmed/16449388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0508483103
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