Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V253L
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GCK

NM_000162.5:p.V253L

Associated Papers

Maturity-onset diabetes of the young in a large Portuguese cohort.

Santos Monteiro S et al.

Acta Diabetologica, 2023

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations.

Alvelos MI et al.

Journal of Clinical Medicine, 2020

Targeted sequencing identifies novel variants in common and rare MODY genes.

de Santana LS et al.

Molecular Genetics & Genomic Medicine, 2019

31595705 (PubMed )
Supplement: MGG3-7-e962-s003.docx

Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY.

Weinert LS et al.

Diabetes Research and Clinical Practice, 2014

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