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. 2022 Feb 9;188(5):1497–1514. doi: 10.1002/ajmg.a.62677

FIGURE 1.

FIGURE 1

Variant interpretation plot for all probands with pathogenic HNRNPU variants in this cohort and published literature. Variant nomenclature is according to gene transcript NM_031844.2. Refer to Table 3 regarding references for the variants