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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EP300

Variant:p.M1832delins

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EP300

NM_001429.4:p.M1832delins

hg38:chr22:41177206 T>TGGC

Associated Papers

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Haghshenas S et al.

Hgg Advances, 2024

38553851 (PubMed )

Supplement: mmc4.pdf

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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."