Varaico: Literature-Extracted Genetic Variants

Gene:GCKR
Variant:p.E300K
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GCKR

NM_001486.4:p.E300K

Associated Papers

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.

Gloyn AL et al.

The Journal of Biological Chemistry, 2005

Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis.

Davis EA et al.

Diabetologia, 1999

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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."