Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.V281M
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GALK1

NM_000154.2:p.V281M

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

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

P S et al.

Journal of Cellular Biochemistry, 2018

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."