Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.V238E
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GALK1

NM_000154.2:p.V238E

Associated Papers

Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.

Fecarotta S et al.

Orphanet Journal of Rare Diseases, 2025

39856690 (PubMed )
Supplement: 13023_2025_3546_MOESM3_ESM.pdf

Improving the Activity and Stability of Human Galactokinase for Therapeutic and Biotechnological Applications.

McAuley M et al.

Chembiochem : a European Journal of Chemical Biology, 2018

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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."