Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Y234H
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GCK

NM_000162.5:p.Y234H

Associated Papers

The Pathogenic Diagnosis in Pediatric Diabetology: Next Generation Sequencing and Precision Therapy.

Maione G et al.

Medicina (kaunas, Lithuania), 2023

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

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

A new clinical screening strategy and prevalence estimation for glucokinase variant-induced diabetes in an adult Chinese population.

Ma Y et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Lower Circulating miR-122 Level in Patients with HNF1A Variant-Induced Diabetes Compared with Type 2 Diabetes.

Huang X et al.

Journal of Diabetes Research, 2018

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

George DC et al.

Theranostics, 2014

24578721 (PubMed )
Supplement: thnov04p0366s1.pdf
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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."