Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.P432H
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GCK

NM_000162.5:p.P432H

Associated Papers

Emerging technologies in pediatrics: the paradigm of neonatal diabetes mellitus.

Nicolaides NC et al.

Critical Reviews in Clinical Laboratory Sciences, 2020

Mutations in glucokinase and other genes detected in neonatal and type 1B diabetes patient using whole exome sequencing may lead to disease-causing changes in protein activity.

Lin DC et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019

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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."