Varaico: Literature-Extracted Genetic Variants

Gene:ADSS1
Variant:p.A257T
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ADSS1

NM_152328.5:p.A257T

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

ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features.

Saito Y et al.

Neurology, 2020

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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."