Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.L260insFs
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SMN1

NM_000344.4:p.L260insFs

Associated Papers

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Wadman RI et al.

Brain Communications, 2020

Spinal muscular atrophy diagnostics.

Prior TW

Journal of Child Neurology, 2007

Importance of standard nomenclature for SMN1 small intragenic ("subtle") mutations.

Ogino S et al.

Human Mutation, 2004

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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."