Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.G287_R288insFs
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SMN2

NM_017411.4:p.G287_R288insFs

Associated Papers

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

Wadman RI et al.

Brain Communications, 2020

Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.

Ganji H et al.

Journal of Child Neurology, 2015

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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."