Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.S266P
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SMN2

NM_017411.4:p.S266P

Associated Papers

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

Haque US et al.

Genes, 2024

Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.

Miller CR et al.

Human Mutation, 2023

40225149 (PubMed )
Supplement: 6436853.f1.docx

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

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."