Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.G662A
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GALC

NM_000153.4:p.G662A

Associated Papers

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

Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.

Hossain MA et al.

Gene, 2014

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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."