Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G246R
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GCK

NM_000162.5:p.G246R

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

Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection.

Schwitzgebel VM et al.

Frontiers in Medicine, 2024

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

Identification and management of GCK-MODY complicating pregnancy in Chinese patients with gestational diabetes.

Jiang Y et al.

Molecular and Cellular Biochemistry, 2022

Precision medicine in diabetes: A non-invasive prenatal diagnostic test for the determination of fetal glucokinase mutations.

Nouspikel T et al.

Journal of Diabetes Investigation, 2022

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.

Caswell RC et al.

Clinical Chemistry, 2020

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
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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."