Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V302L
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GCK

NM_000162.5:p.V302L

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_Probands

Phenotype Heterogeneity in Glucokinase-Maturity-Onset Diabetes of the Young (GCK-MODY) Patients.

Wędrychowicz A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2017

Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young.

Szopa M et al.

Polskie Archiwum Medycyny Wewnetrznej, 2015

Less but better: cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level.

Fendler W et al.

Acta Diabetologica, 2014

Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort.

Borowiec M et al.

Clinical Genetics, 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."