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An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval.
Kapoor A, Sekar RB, Hansen NF, Fox-Talbot K, Morley M, Pihur V, Chatterjee S, Brandimarto J, Moravec CS, Pulit SL; QT Interval-International GWAS Consortium; Pfeufer A, Mullikin J, Ross M, Green ED, Bentley D, Newton-Cheh C, Boerwinkle E, Tomaselli GF, Cappola TP, Arking DE, Halushka MK, Chakravarti A. Kapoor A, et al. Am J Hum Genet. 2014 Jun 5;94(6):854-69. doi: 10.1016/j.ajhg.2014.05.001. Epub 2014 May 22. Am J Hum Genet. 2014. PMID: 24857694 Free PMC article.
Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics.
Lundby A, Rossin EJ, Steffensen AB, Acha MR, Newton-Cheh C, Pfeufer A, Lynch SN; QT Interval International GWAS Consortium (QT-IGC); Olesen SP, Brunak S, Ellinor PT, Jukema JW, Trompet S, Ford I, Macfarlane PW, Krijthe BP, Hofman A, Uitterlinden AG, Stricker BH, Nathoe HM, Spiering W, Daly MJ, Asselbergs FW, van der Harst P, Milan DJ, de Bakker PI, Lage K, Olsen JV. Lundby A, et al. Nat Methods. 2014 Aug;11(8):868-74. doi: 10.1038/nmeth.2997. Epub 2014 Jun 22. Nat Methods. 2014. PMID: 24952909 Free PMC article.