Fig. 2: Recurrent variant phenograms. | Genetics in Medicine

Fig. 2: Recurrent variant phenograms.

From: Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Fig. 2

(a) Phenogram comparing the frequency of Human Phenotype Ontology (HPO) terms in individuals with variant p.L1342P and the remainder of the cohort. (b) Phenogram comparing the frequency of HPO terms in individuals with variant p.A263V and the remainder of the cohort. (c) Phenogram comparing the frequency of HPO terms in individuals with variant p.R853Q and the remainder of the cohort. Red points indicate HPO terms with uncorrected p values <0.05, blue points indicate HPO terms with uncorrected p values ≥0.05. EEG electroencephalogram.

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