Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E70Splc
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GCK

NM_000162.5:p.E70Splc

Associated Papers

Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort.

Johnson SR et al.

Pediatric Diabetes, 2019

Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.

Pruhova S et al.

Pediatric Diabetes, 2010

Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations.

Lukášová P et al.

Physiological Research, 2008

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

Ellard S et al.

Human Mutation, 2006

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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."