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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RBMS3

Variant:p.Q296_V297Splc

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RBMS3

NM_001003793.3:p.Q296_V297Splc

hg38:chr3:29897476 G>C

Associated Papers

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

Wu J et al.

Journal of Neurochemistry, 2025

40566997 (PubMed )

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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."