Varaico: Literature-Extracted Genetic Variants

Gene:GALE
Variant:p.C307Y
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GALE

NM_001008216.2:p.C307Y

Associated Papers

A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.

Febres-Aldana CA et al.

Molecular Syndromology, 2020

Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase.

Schulz JM et al.

The Journal of Biological Chemistry, 2004

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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."