Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.W132*
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GALC

NM_000153.4:p.W132*

Associated Papers

Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.

Asgari P et al.

Bmc Neurology, 2026

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.

Veltra D et al.

Expert Review of Molecular Diagnostics, 2023

Analysis of age-related changes in psychosine metabolism in the human brain.

Marshall MS et al.

Plos One, 2018

The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

Dimitriou E et al.

Jimd Reports, 2016

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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."