Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.M283_G284del2
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GALC

NM_000153.4:p.M283_G284del2

Associated Papers

Late-Onset Krabbe Disease: Case Report of Two Patients in a Chinese Family and Literature Review.

Sun Y et al.

Molecular Genetics & Genomic Medicine, 2025

A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report.

He Z et al.

Neurocase, 2022

A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.

Wu G et al.

Frontiers in Neuroscience, 2022

Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature.

Zhang C et al.

Journal of Molecular Neuroscience : Mn, 2021

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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."