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. 2020 Dec 2;49(D1):D1207–D1217. doi: 10.1093/nar/gkaa1043

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© The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 3. — HPO-based analyses demonstrate the clinical features associated with diagnostic variants in SCN1A in published cohorts with developmental and epileptic encephalopathies of various known, or unknown but presumed genetic, etiologies. Fisher's exact test p-value for each term indicates the significance of the association between the HPO term and the presence of a diagnostic SCN1A variant in the cohort. (A) The frequency of HPO terms in SCN1A variant carriers versus non-carriers regardless of age. (B) The same data presented to demonstrate the conceptual relationships between associated features within the structure of the HPO. (A) and (B) modified from (24) with only a selection of terms labeled for legibility.