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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EP300

Variant:p.A990_D991delFs

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EP300

NM_001429.4:p.A990_D991delFs

hg38:chr22:41151982 AGCAG>A

Associated Papers

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis.

Boissel S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29261186 (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."