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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPEN

Variant:p.Q665*

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SPEN

NM_015001.3:p.Q665*

hg38:chr1:15928233 C>T

Associated Papers

The contribution of de novo coding mutations to meningomyelocele.

Ha YJ et al.

Nature, 2025

40140573 (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."