Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.S23*
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GALC

NM_000153.4:p.S23*

Associated Papers

Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.

Iacono D et al.

Neurobiology of Disease, 2022

Analysis of age-related changes in psychosine metabolism in the human brain.

Marshall MS et al.

Plos One, 2018

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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."