Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L185P
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GCK

NM_000162.5:p.L185P

Associated Papers

Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance.

De Sousa SMC et al.

Acta Diabetologica, 2025

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Minniakhmetov IR et al.

International Journal of Molecular Sciences, 2025

Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing.

De Sousa SMC et al.

Acta Diabetologica, 2024

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

Targeted sequencing identifies novel variants in common and rare MODY genes.

de Santana LS et al.

Molecular Genetics & Genomic Medicine, 2019

31595705 (PubMed )
Supplement: MGG3-7-e962-s003.docx

GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.

Sanyoura M et al.

Diabetes Research and Clinical Practice, 2019

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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."