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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASZ1

Variant:p.P893L

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CASZ1

NM_001079843.3:p.P893L

hg38:chr1:10653379 G>A

Associated Papers

Enhancer Poising Enables Pathogenic Gene Activation by Noncoding Variants.

Hollingsworth EW et al.

Biorxiv : the Preprint Server for Biology, 2025

40667262 (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."