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Variants in ZNF365 isoform D are associated with Crohn's disease.
Haritunians T, Jones MR, McGovern DP, Shih DQ, Barrett RJ, Derkowski C, Dubinsky MC, Dutridge D, Fleshner PR, Ippoliti A, King L, Leshinsky-Silver E, Levine A, Melmed GY, Mengesha E, Vasilauskas EA, Ziaee S, Rotter JI, Targan SR, Taylor KD. Haritunians T, et al. Gut. 2011 Aug;60(8):1060-7. doi: 10.1136/gut.2010.227256. Epub 2011 Jan 21. Gut. 2011. PMID: 21257989 Free PMC article.
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus.
Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, Sachs KV, Li X, Li H, Kuperwasser N, Ruda VM, Pirruccello JP, Muchmore B, Prokunina-Olsson L, Hall JL, Schadt EE, Morales CR, Lund-Katz S, Phillips MC, Wong J, Cantley W, Racie T, Ejebe KG, Orho-Melander M, Melander O, Koteliansky V, Fitzgerald K, Krauss RM, Cowan CA, Kathiresan S, Rader DJ. Musunuru K, et al. Nature. 2010 Aug 5;466(7307):714-9. doi: 10.1038/nature09266. Nature. 2010. PMID: 20686566 Free PMC article.