Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E246Q
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GCK

NM_033507.3:p.E246Q

Associated Papers

Genotype, Phenotype, and Clinical Characteristics of Maturity-Onset Diabetes of the Young (MODY): Predominance of GCK-MODY

Kayaş L et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › hyper-variants-positive-dddG
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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."