Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.V200A
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GCK

NM_000162.5:p.V200A

Associated Papers

A Comprehensive Analysis of Hungarian MODY Patients-Part II: Glucokinase MODY Is the Most Prevalent Subtype Responsible for about 70% of Confirmed Cases.

Gaál Z et al.

Life (basel, Switzerland), 2021

Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes.

Ming-Qiang Z et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.

Šimčíková D et al.

Scientific Reports, 2017

28842611 (PubMed )
Supplement: 41598_2017_9810_MOESM1_ESM.pdf

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.

Valentínová L et al.

Plos One, 2012

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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."