Varaico: Literature-Extracted Genetic Variants

Gene:GALC
Variant:p.S303P
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GALC

NM_000153.4:p.S303P

Associated Papers

A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life.

Bascou N et al.

Orphanet Journal of Rare Diseases, 2018

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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."