Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.G9R
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SMN2

NM_017411.4:p.G9R

Associated Papers

Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts.

Nadal M et al.

Protein Science : a Publication of the Protein Society, 2023

Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions.

Singh NN et al.

Annals of the New York Academy of Sciences, 2015

Advances in therapeutic development for spinal muscular atrophy.

Howell MD et al.

Future Medicinal Chemistry, 2014

Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model.

Bebee TW et al.

Human Molecular Genetics, 2012

Molecular basis of purine-rich RNA recognition by the human SR-like protein Tra2-β1.

Cléry A et al.

Nature Structural & Molecular Biology, 2011

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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."