Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.F419fs
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GCK

NM_000162.5:p.F419fs

Associated Papers

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

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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."