Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.R68C
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GALK1

NM_000154.2:p.R68C

Associated Papers

Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.

P S et al.

Journal of Cellular Biochemistry, 2018

Molecular structure of human galactokinase: implications for type II galactosemia.

Thoden JB et al.

The Journal of Biological Chemistry, 2005

Galactokinase: structure, function and role in type II galactosemia.

Holden HM et al.

Cellular and Molecular Life Sciences : Cmls, 2004

Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.

Hartley A et al.

Journal of Molecular Biology, 2004

Molecular structure of galactokinase.

Thoden JB et al.

The Journal of Biological Chemistry, 2003

Functional analysis of disease-causing mutations in human galactokinase.

Timson DJ et al.

European Journal of Biochemistry, 2003

Novel mutations in the GALK1 gene in patients with galactokinase deficiency.

Hunter M et al.

Human Mutation, 2001

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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."