Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.G63D
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GALC

NM_000153.4:p.G63D

Associated Papers

History, genetic, and recent advances on Krabbe disease.

Graziano AC et al.

Gene, 2015

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

Tappino B et al.

Human Mutation, 2010

Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination.

Satoh JI et al.

Neurology, 1997

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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."