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

6 Oct 2017

Abstract excerpt

Abstract Finding new causes of monogenic diabetes helps understand glycaemic regulation in humans. To find novel genetic causes of maturity-onset diabetes of the young (MODY), we sequenced MODY cases with unknown aetiology and compared variant frequencies to large public databases. From 36 European patients, we identify two probands with novel RFX6 heterozygous nonsense variants. RFX6 protein truncating variants...

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PMID: 29026101
DOI: 10.1038/s41467-017-00895-9

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