Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L307F
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GCK

NM_000162.5:p.L307F

Associated Papers

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.

Minniakhmetov IR et al.

International Journal of Molecular Sciences, 2025

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_2

Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes.

Glotov OS et al.

Molecular Medicine Reports, 2019

GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.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