Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.P428S
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EP300

NM_001429.4:p.P428S

Associated Papers

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation: Correspondence.

Negri G et al.

Indian Journal of Pediatrics, 2017

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation.

Tamhankar PM et al.

Indian Journal of Pediatrics, 2016

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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."