Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.

Added 1236 days ago (15.10.2017)
Authors: Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN
PubMed id: 29026101
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