Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.S340Splc
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GCK

NM_000162.5:p.S340Splc

Associated Papers

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

Abu Aqel Y et al.

Cellular & Molecular Biology Letters, 2024

The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.

Butnariu LI et al.

International Journal of Molecular Sciences, 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_Probands

Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.

Colclough K et al.

Diabetes, 2022

From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

Sagen JV et al.

Diabetes, 2006

Permanent neonatal diabetes in an Asian infant.

Porter JR et al.

The Journal of Pediatrics, 2005

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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."