Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.K139del1
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GALC

NM_000153.4:p.K139del1

Associated Papers

Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.

Asgari P et al.

Bmc Neurology, 2026

Clinical and molecular findings in 6 Turkish cases with Krabbe disease.

Aslanger AD et al.

The Turkish Journal of Pediatrics, 2022

A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.

Tuncer FN et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018

Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports.

Vargiami E et al.

Balkan Journal of Medical Genetics : Bjmg, 2016

The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

Dimitriou E et al.

Jimd Reports, 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."