Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.W267*
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SMN1

NM_000344.4:p.W267*

Associated Papers

A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy.

Bai J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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."