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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NOP56

Variant:p.I104insFs

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NOP56

NM_006392.4:p.I104insFs

hg38:chr20:2654515 A>AT

Associated Papers

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Steyaert W et al.

Genome Research, 2025

40138663 (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."