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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EP300

Variant:p.L93insFs

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EP300

NM_001429.4:p.L93insFs

hg38:chr22:41117367 A>AC

Associated Papers

Prenatal Diagnosis of Rubinstein-Taybi Syndrome-Reporting Twelve Cases of a Rare Disease.

Yu QX et al.

Prenatal Diagnosis, 2025

41170948 (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."