Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.I184M
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GALK1

NM_000154.2:p.I184M

Associated Papers

Exploring genetic variants in congenital monosaccharide-disaccharide metabolism: Carrier ratios and phenotypic insights.

Akcan MB et al.

Journal of Pediatric Gastroenterology and Nutrition, 2024

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

P S et al.

Journal of Cellular Biochemistry, 2018

Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.

Maraini G et al.

Molecular Vision, 2003

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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."