Varaico: Literature-Extracted Genetic Variants

Gene:CSTB
Variant:p.E62E
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CSTB

NM_000100.4:p.E62E

Associated Papers

Acid Ceramidase Deficiency: New Insights on SMA-PME Natural History, Biomarkers, and In Cell Enzyme Activity Assay.

Cuinat S et al.

Neurology. Genetics, 2025

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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."