Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.N254H
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GCK

NM_000162.5:p.N254H

Associated Papers

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

Pathogenic variants of MODY-genes in adult patients with early-onset type 2 diabetes.

Pezzilli S et al.

Acta Diabetologica, 2022

Monogenic diabetes in overweight and obese youth diagnosed with type 2 diabetes: the TODAY clinical trial.

Kleinberger JW et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

A new compound heterozygosis for inactivating mutations in the glucokinase gene as cause of permanent neonatal diabetes mellitus (PNDM) in double-first cousins.

Esquiaveto-Aun AM et al.

Diabetology & Metabolic Syndrome, 2015

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."