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Identification and analysis of individuals who deviate from their genetically-predicted phenotype.
Hawkes G, Yengo L, Vedantam S, Marouli E, Beaumont RN; GIANT Consortium; Tyrrell J, Weedon MN, Hirschhorn J, Frayling TM, Wood AR. Hawkes G, et al. Among authors: weedon mn. bioRxiv [Preprint]. 2023 Feb 10:2023.02.10.528019. doi: 10.1101/2023.02.10.528019. bioRxiv. 2023. Update in: PLoS Genet. 2023 Sep 21;19(9):e1010934. doi: 10.1371/journal.pgen.1010934. PMID: 36798175 Free PMC article. Updated. Preprint.
Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.
Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM. Gloyn AL, et al. Among authors: weedon mn. Diabetes. 2003 Feb;52(2):568-72. doi: 10.2337/diabetes.52.2.568. Diabetes. 2003. PMID: 12540637
298 results