Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.M121_L122Splc
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GCK

NM_000162.5:p.M121_L122Splc

Associated Papers

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Gloyn AL

Human Mutation, 2003

High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes.

Lehto M et al.

Diabetologia, 1999

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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."