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Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-95133-0
Abstract: Rubinstein–Taybi syndrome (RSTS) is a human genetic disorder characterized by distinctive craniofacial features, broad thumbs and halluces, and intellectual disability. Mutations in the CREB binding protein (CREBBP) and E1A binding protein p300 (EP300) are the…
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Keywords:
ep300;
plau;
ep300 plau;
rubinstein taybi ... See more keywords