Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.T344M
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GALK1

NM_000154.2:p.T344M

Associated Papers

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

Thoden JB et al.

The Journal of Biological Chemistry, 2005

Molecular functions of conserved aspects of the GHMP kinase family.

Andreassi JL et al.

Biochemistry, 2004

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

Holden HM et al.

Cellular and Molecular Life Sciences : Cmls, 2004

Molecular characterization of galactokinase deficiency in Japanese patients.

Asada M et al.

Journal of Human Genetics, 1999

[Galactokinase deficiency].

Okano Y et al.

Ryoikibetsu Shokogun Shirizu, 1998

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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."