Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

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Figure 2.
Figure 2.

The distribution of the 606 qualified pathogenic variants (red circles) among the 11 epilepsy genes. The distribution of the 606 qualified pathogenic variants across genes: (A) CDKL5; (B) SLC2A1; (C) LGI1; (D) STXBP1; (E) GRIN2A; (F) KCNQ2; (G) KCNT1; (H) PCDH19; (I) SCN1A; (J) SCN2A; and (K) SCN8A.

This Article

  1. Published in Advance September 1, 2017, doi: 10.1101/gr.226589.117 Genome Res. 27: 1715-1729

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