Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.G194_I195Splc
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GALC

NM_000153.4:p.G194_I195Splc

Associated Papers

Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature.

Su Y et al.

Neurocase, 2024

Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease.

Zhang X et al.

Translational Pediatrics, 2021

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

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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."