Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.R1197Splc
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EP300

NM_001429.4:p.R1197Splc

Associated Papers

Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein-Taybi syndrome type 2 in Chinese patients.

Zhang Q et al.

Frontiers in Genetics, 2025

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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."