Varaico: Literature-Extracted Genetic Variants

Gene:GALT
Variant:p.Y339C
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GALT

NM_000155.4:p.Y339C

Associated Papers

Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review.

Forte G et al.

International Journal of Molecular Sciences, 2023

Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

Boutron A et al.

Molecular Genetics and Metabolism, 2012

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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."