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From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.
Nature. 2010 Aug 5;466(7307):714-9. doi: 10.1038/nature09266.
Nature. 2010.
PMID: 20686566
Free PMC article.
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.
Musunuru K, Pirruccello JP, Do R, Peloso GM, Guiducci C, Sougnez C, Garimella KV, Fisher S, Abreu J, Barry AJ, Fennell T, Banks E, Ambrogio L, Cibulskis K, Kernytsky A, Gonzalez E, Rudzicz N, Engert JC, DePristo MA, Daly MJ, Cohen JC, Hobbs HH, Altshuler D, Schonfeld G, Gabriel SB, Yue P, Kathiresan S.
Musunuru K, et al.
N Engl J Med. 2010 Dec 2;363(23):2220-7. doi: 10.1056/NEJMoa1002926. Epub 2010 Oct 13.
N Engl J Med. 2010.
PMID: 20942659
Free PMC article.
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