Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.V94G
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SMN2

NM_017411.4:p.V94G

Associated Papers

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

Haque US et al.

Genes, 2024

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

Wadman RI et al.

Brain Communications, 2020

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

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.

Clermont O et al.

Human Mutation, 2004

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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."