Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.M263T
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SMN2

NM_017411.4:p.M263T

Associated Papers

Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges.

Haque US et al.

Genes, 2024

What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective.

Blatnik AJ et al.

International Journal of Molecular Sciences, 2021

Assembly of higher-order SMN oligomers is essential for metazoan viability and requires an exposed structural motif present in the YG zipper dimer.

Gupta K et al.

Nucleic Acids Research, 2021

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals.

Bowen BM et al.

Frontiers in Neurology, 2021

34025568 (PubMed )
Supplement: Data_Sheet_1.pdf

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

Wadman RI et al.

Brain Communications, 2020

Advances in therapeutic development for spinal muscular atrophy.

Howell MD et al.

Future Medicinal Chemistry, 2014

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Alías L et al.

Human Genetics, 2009

Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes.

Rossoll W et al.

Results and Problems in Cell Differentiation, 2009

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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."