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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 1. . Two clusters of pathogenic missense variants are observed, one within the spectrin repeat domain and another within the GEFD1 domain (see Molecular Pathogenesis).

Figure 1.

Two clusters of pathogenic missense variants are observed, one within the spectrin repeat domain and another within the GEFD1 domain (see Molecular Pathogenesis). Representation of the spectrin repeats in this figure are not accurate, and the region (and number of repeats) are not well defined in the literature. As shown, some variants appear to be recurrent (number of reported individuals in parentheses). Truncating variants occur throughout the gene and are not displayed here.

Generated with MutationMapper [Cerami et al 2012]

From: TRIO-Related Neurodevelopmental Disorder

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