Identification of de novo EP300 and PLAU variants in a patient
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Skeletal findings of patients carrying mutations of the EP300 gene
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A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
Cancers, Free Full-Text
Cancers, Free Full-Text
Zebrafish has two co-orthologues of ep300. (a) Phylogenetic tree of
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Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants - ScienceDirect
Figure 2 from De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
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