Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.Q219*
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GCK

NM_000162.5:p.Q219*

Associated Papers

Actionable Genotypes and Their Association with Life Span in Iceland.

Jensson BO et al.

The New England Journal of Medicine, 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_Probands

A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.

Ebrahim MS et al.

Diabetes & Metabolism, 2014

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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."