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Gain of Function of Malate Dehydrogenase 2 and Familial Hyperglycemia

30 Oct 2021

Abstract excerpt

CONTEXT: Genes causing familial forms of diabetes mellitus are only partially known. OBJECTIVE: We set out to identify the genetic cause of hyperglycemia in multigenerational families with an apparent autosomal dominant form of adult-onset diabetes not due to mutations in known monogenic diabetes genes. METHODS: Existing whole-exome sequencing (WES) data were used to identify exonic variants segregating with...

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PMID: 34718610
DOI: 10.1210/clinem/dgab790

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