Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.C287Y
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GALC

NM_000153.4:p.C287Y

Associated Papers

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

Asgari P et al.

Bmc Neurology, 2026

Genotype and phenotype classification of 29 patients affected by Krabbe disease.

Madsen AMH et al.

Jimd Reports, 2019

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

Clinical and Genetic Characteristics of Leukodystrophies in Africa.

Amin M et al.

Journal of Neurosciences in Rural Practice, 2017

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report.

Zerkaoui M et al.

Bmc Pediatrics, 2015

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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."