Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.K24_E25Splc
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SOD1

NM_000454.5:p.K24_E25Splc

Associated Papers

Long-term treatment of SOD1 ALS with tofersen: a multicentre experience in 17 patients.

Sabatelli M et al.

Journal of Neurology, 2024

Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

Bartoletti-Stella A et al.

Journal of Neurology, 2021

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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."