Article

Heterozygous <i>RFX6</i> protein truncating variants are associated with Maturity-Onset Diabetes of the Young (MODY) with reduced penetrance

2017-01-22

Abstract excerpt

Finding new genetic causes of monogenic diabetes can help to understand development and function of the human pancreas. We aimed to find novel protein–truncating variants causing Maturity–Onset Diabetes of the Young (MODY), a subtype of monogenic diabetes. We used a combination of next–generation sequencing of MODY cases with unknown aetiology along with comparisons to the ExAC database to identify new MODY genes....

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Literature Corpus work: d07ce179-e65b-549d-b6e9-a89dddb80ff2
DOI: 10.1101/101881

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