Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.C230Y
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GCK

NM_000162.5:p.C230Y

Associated Papers

Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene.

Goksen D et al.

Diabetes Research and Clinical Practice, 2023

High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.

Zubkova N et al.

Acta Diabetologica, 2019

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

Alkorta-Aranburu G et al.

Molecular Genetics and Metabolism, 2014

GCKR mutations in Japanese families with clustered type 2 diabetes.

Tanaka D et al.

Molecular Genetics and Metabolism, 2011

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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."