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Article

Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

Clinical genetics - 1 Oct 2017

Santana L S, Caetano L A, Costa-Riquetto A D, Quedas E P S, Nery M, Collett-Solberg P, Boguszewski M C S, Vendramini M F, Crisostomo L G, Floh F O, Zarabia Z I, Kohara S K, Guastapaglia L, Passone C G B, Sewaybricker L E, Jorge A A L, Teles M G

Abstract excerpt

Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK -MODY and HNF1A -MODY are the prevalent subtypes. Currently, there is growing concern regarding the correct interpretation of molecular genetic findings. The American College of Medical Genetics and Genomics (ACMG) updated guidelines to interpret and classify molecular variants. This study aimed to...

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Source

Identifiers

PMID: 28170077
DOI: 10.1111/cge.12988

Genes

GCK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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