Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.T255_E256insFs
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GCK

NM_000162.5:p.T255_E256insFs

Associated Papers

Congenital beta cell defects are not associated with markers of islet autoimmunity, even in the context of high genetic risk for type 1 diabetes.

Wyatt RC et al.

Diabetologia, 2022

35501400 (PubMed )
Supplement: 125_2022_5697_MOESM1_ESM.pdf

Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

Raimondo A et al.

Human Molecular Genetics, 2014

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing.

Ellard S et al.

Diabetologia, 2013

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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."