Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.D56H
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GALC

NM_000153.4:p.D56H

Associated Papers

Genetic and Clinical Characteristics of Chinese Adult Patients With Krabbe Disease.

Zhang Y et al.

Cns Neuroscience & Therapeutics, 2025

New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.

Xie JJ et al.

Cns Neuroscience & Therapeutics, 2020

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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."