Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.M3R
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SMN1

NM_000344.4:p.M3R

Associated Papers

QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease.

Kaltak M et al.

Scientific Reports, 2024

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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."