Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.F171L
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GCK

NM_000162.5:p.F171L

Associated Papers

Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children.

Ding Y et al.

Pediatric Diabetes, 2025

Novel variants of monogenic diabetes and impact of genetic diagnosis on treatment strategies.

Stankute I et al.

Frontiers in Medicine, 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 › gnomAD

Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.

Ding Y et al.

Journal of Diabetes Investigation, 2021

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

George DC et al.

Theranostics, 2014

24578721 (PubMed )
Supplement: thnov04p0366s1.pdf

MODY 2: mutation identification and molecular ancestry in a Brazilian family.

Mota AJ et al.

Gene, 2013

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Gloyn AL

Human Mutation, 2003

Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young.

Mantovani V et al.

Human Mutation, 2003

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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."