Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S212_C213del1
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GCK

NM_000162.5:p.S212_C213del1

Associated Papers

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes.

Yorifuji T et al.

Journal of Diabetes Investigation, 2023

Genetic basis of early-onset, maturity-onset diabetes of the young-like diabetes in Japan and features of patients without mutations in the major MODY genes: Dominance of maternal inheritance.

Yorifuji T et al.

Pediatric Diabetes, 2018

Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients.

Wędrychowicz A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2017

Clinical, Genetic, and Biochemical Characteristics of Early-Onset Diabetes in the Finnish Population.

Huopio H et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

Molecular and clinical characterization of glucokinase maturity-onset diabetes of the young (GCK-MODY) in Japanese patients.

Kawakita R et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."