Functional annotation of variants in monogenic diabetes genes to support diagnostic interpretation
<p>Maturity-Onset Diabetes of the Young (MODY) is a monogenic form of hyperglycaemia that is both genetically and clinically heterogeneous. The majority of MODY cases (80%) are caused by heterozygous damaging alleles in clinically actionable genes (<em>HNF1A, HNF4A and GCK</em>). F...
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2018
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