Article

<i>RFX6</i> haploinsufficiency predisposes to diabetes through impaired beta cell functionality

2023-11-16

Abstract excerpt

Regulatory factor X 6 (RFX6) is indispensable for pancreatic endocrine development and differentiation. The RFX6 protein-truncating variant p.His293LeufsTer7 is significantly enriched in the Finnish population with almost 1:250 individuals as a carrier. Importantly, the FinnGen study indicates a high predisposition for heterozygous carriers to develop type 2 diabetes (T2D) and gestational diabetes. To understand t...

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Literature Corpus work: ddcf33b6-f60b-5f9d-adeb-6a11d67011cc
DOI: 10.1101/2023.11.15.567202

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