First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open
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Last updated 20 setembro 2024
Further delineation of an entity caused by CREBBP and EP300
First case report of inherited Rubinstein-Taybi syndrome
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome
Berberine Ameliorates Lipopolysaccharide-Induced Cognitive
PDF) First case report of inherited Rubinstein-Taybi syndrome
High frequency of copy number imbalances in Rubinstein–Taybi
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2
Long-read sequencing to reclassify variants of uncertain
PDF) First case report of inherited Rubinstein-Taybi syndrome
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