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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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Autori principali: Cohen, Jonathan C., Pertsemlidis, Alexander, Fahmi, Saleemah, Esmail, Sophie, Vega, Gloria L., Grundy, Scott M., Hobbs, Helen H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 2006
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Accesso online: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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