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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EP300

Variant:p.H2338_Q2343del0

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EP300

NM_001429.4:p.H2338_Q2343del0

hg38:chr22:41178719 TCCACACCACGTTTCC>T

Associated Papers

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Homan CC et al.

Blood Advances, 2023

37406166 (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."