Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
Patel, Kashyap A ; Kettunen, Jarno ; Laakso, Markku ; Stančáková, Alena ; Laver, Thomas W ; Colclough, Kevin ; Johnson, Matthew B ; Abramowicz, Marc ; Groop, Leif ; Miettinen, Päivi J ; Shepherd, Maggie H ; Flanagan, Sarah E ; Ellard, Sian ; Inagaki, Nobuya ; Hattersley, Andrew T ; Tuomi, Tiinamaija ; Cnop, Miriam ; Weedon, Michael N
Nature communications, 2017-10, Vol.8 (1), p.888-8, Article 888 [Periódico revisado por pares]England: Nature Publishing Group
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