Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.A1787S
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EP300

NM_001429.4:p.A1787S

Associated Papers

A Novel EP300 Variant in an African American Girl With Global Developmental Delay and Leukemia.

Barua S et al.

Molecular Genetics & Genomic Medicine, 2025

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s8.xls › True_negative_filtration_1
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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."