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GATA6 haploinsufficiency causes pancreatic agenesis in humans.
Nat Genet. 2011 Dec 11;44(1):20-22. doi: 10.1038/ng.1035.
Nat Genet. 2011.
PMID: 22158542
Free PMC article.
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH, Allen HL, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A; International Pancreatic Agenesis Consortium; Ellard S, Ferrer J, Hattersley AT.
Weedon MN, et al.
Nat Genet. 2014 Jan;46(1):61-64. doi: 10.1038/ng.2826. Epub 2013 Nov 10.
Nat Genet. 2014.
PMID: 24212882
Free PMC article.
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