Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V86A
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GCK

NM_000162.5:p.V86A

Associated Papers

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis.

Abu Aqel Y et al.

Cellular & Molecular Biology Letters, 2024

Localized increases in CEPT1 and ATGL elevate plasmalogen phosphatidylcholines in HDLs contributing to atheroprotective lipid profiles in hyperglycemic GCK-MODY.

Wang X et al.

Redox Biology, 2021

33450726 (PubMed )
Supplement: mmc1.pdf

Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing.

Anık A et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015

Uncovering the molecular pathogenesis of congenital hyperinsulinism by panel gene sequencing in 32 Chinese patients.

Fan ZC et al.

Molecular Genetics & Genomic Medicine, 2015

Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.

Klupa T et al.

Clinical Endocrinology, 2009

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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."