Varaico: Literature-Extracted Genetic Variants

Gene:ASAH1
Variant:p.V75fs
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ASAH1

NM_177924.5:p.V75fs

Associated Papers

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

Yin X et al.

Heliyon, 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."