Identification of de novo EP300 and PLAU variants in a patient
Por um escritor misterioso
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A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Human genetics and molecular genomics of Chiari malformation type 1: Trends in Molecular Medicine
Mutations truncating the EP300 acetylase in human cancers
Genes, Free Full-Text
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Frontiers The role of noncoding genetic variants in cardiomyopathy
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
Cancers, Free Full-Text
Biomolecules, Free Full-Text
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
Biomolecules, Free Full-Text
Biomedicines, Free Full-Text
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
