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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASAH1

Variant:p.G45V

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ASAH1

NM_177924.5:p.G45V

hg38:chr8:18071382 C>A

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

40017560 (PubMed )

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