Varaico: Literature-Extracted Genetic Variants

Gene:ASAH1
Variant:p.P58L
Back to variants list

ASAH1

NM_177924.5:p.P58L

Associated Papers

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

Yin X et al.

Heliyon, 2025

A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran.

Shervin Badv R et al.

International Medical Case Reports Journal, 2019

When dysphoria is not a primary mental state: A case report of the role of the aromatic L-aminoacid decarboxylase.

Portaro S et al.

Medicine, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."