Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.M278_G279Splc
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SMN2

NM_017411.4:p.M278_G279Splc

Associated Papers

The Impact of Splicing Dysregulation on Neuromuscular Disorders and Current Neuromuscular Genetic Therapies.

Wu J et al.

Journal of Neurochemistry, 2025

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

Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy.

Bai J et al.

Journal of Molecular Neuroscience : Mn, 2021

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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."