Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.Y617*
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GALC

NM_000153.4:p.Y617*

Associated Papers

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

Asgari P et al.

Bmc Neurology, 2026

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.

Guenzel AJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature.

Szymańska K et al.

Folia Neuropathologica, 2012

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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."