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

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

Molecular analysis of the SMN gene mutations in spinal muscular atrophy patients in China.

Liu WL et al.

Genetics and Molecular Research : Gmr, 2013

[Study of SMN gene in Chinese children with spinal muscular atrophy].

Liu WL et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2010

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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."