Functional annotation of variants in monogenic diabetes genes to support diagnostic interpretation

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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Bibliografiske detaljer
Hovedforfatter:	Althari, S
Andre forfattere:	Gloyn, A
Format:	Thesis
Udgivet:	2018

Lignende værker

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Data for "Comparison of genetic variants in matched samples using thesaurus annotation"
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