Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.S8fs
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SMN1

NM_000344.4:p.S8fs

Associated Papers

Clinical Characteristics, Genotypes, and Treatment Outcomes in 133 Patients With Spinal Muscular Atrophy: A Retrospective Cohort.

Gan S et al.

Acta Paediatrica (oslo, Norway : 1992), 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."