Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.A543P
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GALC

NM_000153.4:p.A543P

Associated Papers

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

Asgari P et al.

Bmc Neurology, 2026

Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data.

Krieg SI et al.

Orphanet Journal of Rare Diseases, 2020

Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro.

Krägeloh-Mann I et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017

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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."