Varaico: Literature-Extracted Genetic Variants

Gene:ASAH1
Variant:p.G40R
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ASAH1

NM_177924.5:p.G40R

Associated Papers

Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.

Molaei N et al.

Scientific Reports, 2025

41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1

Spinal muscular atrophy with progressive myoclonic epilepsy: A case report from China with new ASAH1 variants.

Yin X et al.

Heliyon, 2025

Identification of a Novel ASAH1 Gene Mutation in Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy.

Ahangari N et al.

Iranian Journal of Child Neurology, 2024

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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."