Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.S273F
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GALC

NM_000153.4:p.S273F

Associated Papers

Quantification profiles of enzyme activity, secretion, and psychosine levels of Krabbe disease galactosylceramidase missense variants.

Peng H et al.

The Journal of Biological Chemistry, 2025

Expression study of Krabbe Disease GALC missense variants - Insights from quantification profiles of residual enzyme activity, secretion and psychosine levels.

Peng H et al.

Biorxiv : the Preprint Server for Biology, 2024

Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.

Hossain MA et al.

Gene, 2014

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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."