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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 2. . Lollipop plot of reported pathogenic CSNK2A1 variants in the literature (n=51) and two-dimensional representation of their locations in the CSNK2A1 protein (x-axis).

Figure 2.

Lollipop plot of reported pathogenic CSNK2A1 variants in the literature (n=51) and two-dimensional representation of their locations in the CSNK2A1 protein (x-axis). Blue-filled circles are missense pathogenic variants and red-filled circles are loss-of-function pathogenic variants. Gold-filled circles are predicted pathogenic splice variants. Variant numbering is according to NM_177559.3.

From: Okur-Chung Neurodevelopmental Syndrome

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Chung W, Okur V. Okur-Chung Neurodevelopmental Syndrome. 2022 Jun 9. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Figure 2. [Lollipop plot of reported pathogenic...].
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