Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E70Splc
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GCK

NM_000162.5:p.E70Splc

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

MODY2 in Asia: analysis of GCK mutations and clinical characteristics.

Zhou Y et al.

Endocrine Connections, 2020

GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey.

Haliloglu B et al.

Clinical Endocrinology, 2016

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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."