Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.W257*
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GCK

NM_000162.5:p.W257*

Associated Papers

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Minniakhmetov IR et al.

International Journal of Molecular Sciences, 2025

The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.

Ivanoshchuk D et al.

Journal of Personalized Medicine, 2023

36836406 (PubMed )
Supplement: jpm-13-00172-s001.zip › jpm-2120690-supplementary.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_Probands

The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.

Ivanoshchuk DE et al.

Journal of Personalized Medicine, 2021

Identification and functional analysis of GCK gene mutations in 12 Chinese families with hyperglycemia.

Wang Z et al.

Journal of Diabetes Investigation, 2019

GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature.

Ping Xiao Y et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016

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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."