Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.G512C
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GALC

NM_000153.4:p.G512C

Associated Papers

Ceramide levels predict clinical severity in adult-onset Krabbe disease independent of extensive white matter hyperintensities.

Yan X et al.

Neurobiology of Disease, 2025

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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."