Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.K563*
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GALC

NM_000153.4:p.K563*

Associated Papers

Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.

Hwang N et al.

Clinical Genetics, 2024

Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report.

Wang Y et al.

Frontiers in Neurology, 2022

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

Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease.

Lim SM et al.

Oncotarget, 2016

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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."