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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EP300

Variant:p.V1393delFs

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EP300

NM_001429.4:p.V1393delFs

hg38:chr22:41169508 TA>T

Associated Papers

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.

Martinez-Granero F et al.

Npj Genomic Medicine, 2021

33767182 (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."