Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.N559insFs
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GALC

NM_000153.4:p.N559insFs

Associated Papers

Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD).

Lee WC et al.

Neurobiology of Disease, 2006

Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.

Wenger DA et al.

Human Mutation, 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."