Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.Y335*
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GALC

NM_000153.4:p.Y335*

Associated Papers

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

Asgari P et al.

Bmc Neurology, 2026

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

Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report.

Wang Y et al.

Frontiers in Neurology, 2022

A new compound heterozygous mutation in adult-onset Krabbe disease.

Meng X et al.

The International Journal of Neuroscience, 2020

Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature.

Bascou NA et al.

Frontiers in Neurology, 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."