Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L288Splc
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GCK

NM_000162.5:p.L288Splc

Associated Papers

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.

Sharp LN et al.

Diabetes, 2026

41288518 (PubMed )
Supplement: EMS210954-supplement-Supplementary_Materials.pdf

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Family_Members

Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.

Sousa M et al.

International Journal of Molecular Sciences, 2022

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.

Colclough K et al.

Diabetes, 2022

The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

Yalçıntepe S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2021

Glucokinase mutations in pediatric patients with impaired fasting glucose.

Aloi C et al.

Acta Diabetologica, 2017

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.

Capuano M et al.

Plos One, 2012

PAX4 mutations in Thais with maturity onset diabetes of the young.

Plengvidhya N et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Gloyn AL

Human Mutation, 2003

Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).

Thomson KL et al.

Human Mutation, 2003

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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."