Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G227S
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GCK

NM_000162.5:p.G227S

Associated Papers

Comparison of the optical coherence tomography-angiography (OCT-A) vascular measurements between molecularly confirmed MODY and age-matched healthy controls.

Çavdarlı C et al.

Acta Diabetologica, 2024

Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus

Şimşek E et al.

Journal of Clinical Research in Pediatric Endocrinology, 2024

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

Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays.

Bouvet D et al.

Human Mutation, 2023

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Estalella I et al.

Clinical Endocrinology, 2007

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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."