Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.G26D
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SMN1

NM_000344.4:p.G26D

Associated Papers

Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.

Zwartkruis MM et al.

Genome Medicine, 2025

40119448 (PubMed )
Supplement: 13073_2025_1448_MOESM7_ESM.xlsx › Sheet1

SMN1 gene duplications are associated with sporadic ALS.

Blauw HM et al.

Neurology, 2012

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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."