Fig. 7: UBE3A hyperactivity causes neurodevelopmental dysfunction. | Nature Communications

Fig. 7: UBE3A hyperactivity causes neurodevelopmental dysfunction.

From: Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

Fig. 7

a Clinical interpretations in ClinVar for variants characterized in this study. The number of individual reports contained in ClinVar are shown for pathogenic/likely pathogenic (black), uncertain/conflicting (gray), and benign/likely benign (white) variants. b, c Pedigree chart for the T787A (b) and L726Δ (c) hyperactive mutations. ID intellectual disability, DD developmental delay, ASD autism spectrum disorder, ADHD attention-deficit/hyperactivity disorder.

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