Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.I293T
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GCK

NM_000162.5:p.I293T

Associated Papers

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

De Sousa SMC et al.

Acta Diabetologica, 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 › Geisinger

MODY2 caused by a novel mutation of GCK gene.

Pulst K et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

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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."