Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.R277Q
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GALK1

NM_000154.2:p.R277Q

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

Multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry.

Ko DH et al.

Clinical Chemistry, 2010

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

Park HD et al.

Molecular Genetics and Metabolism, 2007

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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."