Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.G95E
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SMN1

NM_000344.4:p.G95E

Associated Papers

A 7-year delayed diagnosis in a case of spinal muscular atrophy.

Iwayama H et al.

Brain & Development, 2025

Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study.

Kato T et al.

Orphanet Journal of Rare Diseases, 2025

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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."