Case Report: A novel likely pathogenic GCK variant in a young Chinese girl with severe insulin resistance

ObjectiveTo report a novel GCK variant (c.263T>C) identified in a patient with glucokinase-maturity-onset diabetes of the young (GCK-MODY) and to evaluate its pathogenicity and potential structural impact using in silico analyses. The proband had a paternal history of type 2 diabetes mellitus (T2...

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Principais autores:	Haoyu Bai, Jie Yu, Tong Wang, Jing Ren, Chuhan Shao, Qian Zhang, Xinhua Xiao
Format:	Artigo
Sprog:	Inglês
Udgivet:	Frontiers Media S.A. 2026-04-01
Serier:	Frontiers in Endocrinology
Fag:	GCK-MODY glucokinase glutamic acid decarboxylase antibody novel variant type 2 diabetes whole-exome sequencing
Online adgang:	https://www.frontiersin.org/articles/10.3389/fendo.2026.1826357/full
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