Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.I152I
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SMN1

NM_000344.4:p.I152I

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

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Topaloglu H et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2016

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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."