Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.G137C
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GALK1

NM_000154.2:p.G137C

Associated Papers

Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.

Park HD et al.

Molecular Genetics and Metabolism, 2007

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

Thoden JB et al.

The Journal of Biological Chemistry, 2005

An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening.

Reich S et al.

Pediatric Research, 2002

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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."