Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L324P
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GCK

NM_000162.5:p.L324P

Associated Papers

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Minniakhmetov IR et al.

International Journal of Molecular Sciences, 2025

GCK Mutation Analysis and Clinical Profiles of Chinese Pediatric Patients with MODY2: Insights into Screening and Diagnosis.

Su C et al.

Pediatric Health, Medicine and Therapeutics, 2025

MODY patients carrying mutation in syndromic diabetes genes. An Italian single-center experience.

Marucci A et al.

Acta Diabetologica, 2023

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

Recognition of maturity-onset diabetes of the young in China.

Liang H et al.

Journal of Diabetes Investigation, 2021

Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age.

Katashima R et al.

Journal of Diabetes Research, 2021

Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young.

Brahm AJ et al.

Canadian Journal of Diabetes, 2016

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

Spectrum of HNF1A and GCK mutations in Canadian families with maturity-onset diabetes of the young (MODY).

McKinney JL et al.

Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2004

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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."