Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L315F
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GCK

NM_000162.5:p.L315F

Associated Papers

Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.

Buhur Pirimoglu M et al.

Irish Journal of Medical Science, 2025

Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene.

Goksen D et al.

Diabetes Research and Clinical Practice, 2023

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Family_Members

When do we need to suspect maturity onset diabetes of the young in patients with type 2 diabetes mellitus?

Üstay Ö et al.

Archives of Endocrinology and Metabolism, 2022

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.

Patel KA et al.

Diabetologia, 2022

34686905 (PubMed )
Supplement: 125_2021_5597_MOESM1_ESM.pdf

Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations.

Ateş EA et al.

Balkan Medical Journal, 2021

The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

Yalçıntepe S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2021

Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity by Next-Generation Sequencing in Maturity-Onset Diabetes of the Young.

Demirci DK et al.

Omics : a Journal of Integrative Biology, 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

Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.

Vits L et al.

Clinical Genetics, 2006

Cytokine Profile in Patients With Maturity-onset Diabetes of the Young (MODY).

Diren A et al.

In Vivo (athens, Greece), 0

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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."