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
Por um escritor misterioso
Last updated 26 dezembro 2024
Further delineation of an entity caused by CREBBP and EP300
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Brain size regulations by cbp haploinsufficiency evaluated by in
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Genes, Free Full-Text
Identification of de novo EP300 and PLAU variants in a patient
Rubinstein–Taybi syndrome: clinical and molecular overview
New insights into genetic variant spectrum and genotype–phenotype
New insights into genetic variant spectrum and genotype–phenotype
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare
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