Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S69*
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GCK

NM_000162.5:p.S69*

Associated Papers

A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families.

Giuffrida FM et al.

Diabetes Research and Clinical Practice, 2013

Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.

DellaManna T et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 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."