Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.Y174delFs
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GALC

NM_000153.4:p.Y174delFs

Associated Papers

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.

Beltran-Quintero ML et al.

Orphanet Journal of Rare Diseases, 2019

History, genetic, and recent advances on Krabbe disease.

Graziano AC et al.

Gene, 2015

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

Tappino B et al.

Human Mutation, 2010

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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."