Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.T633delFs
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GALC

NM_000153.4:p.T633delFs

Associated Papers

A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.

Iacono S et al.

Neurogenetics, 2022

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

Wu G et al.

Frontiers in Neuroscience, 2022

Novel GALC Mutations Cause Adult-Onset Krabbe Disease With Myelopathy in Two Chinese Families: Case Reports and Literature Review.

Zhong J 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."