Varaico: Literature-Extracted Genetic Variants

Gene:SOD1
Variant:p.A124del1
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SOD1

NM_000454.5:p.A124del1

Associated Papers

Immune Dysregulation in a Child With SOD1-Related Neurological Disease.

Boutin RCT et al.

American Journal of Medical Genetics. Part A, 2025

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

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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."