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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASAH1

Variant:p.G40R

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ASAH1

NM_177924.5:p.G40R

hg38:chr8:18075548 C>T

Associated Papers

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

Yin X et al.

Heliyon, 2025

39834410 (PubMed )

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

38988840 (PubMed )

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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."