Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L271P
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GCK

NM_000162.5:p.L271P

Associated Papers

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Minniakhmetov IR et al.

International Journal of Molecular Sciences, 2025

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

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 importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young.

Komazec J et al.

Endokrynologia Polska, 2019

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."