Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.Q91_W92Splc
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SMN1

NM_000344.4:p.Q91_W92Splc

Associated Papers

A More Clinically Effective Long-Read Sequencing-Based Approach for Comprehensive Analysis of Spinal Muscular Atrophy.

Li S et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Tricellulin is a tight-junction protein necessary for hearing.

Riazuddin S et al.

American Journal of Human Genetics, 2006

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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."