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Figure 3 | BMC Medical Genetics

Figure 3

From: Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

Figure 3

Pie charts showing the diagnostic yield in individuals with TSC. Percentages of individuals with definite TSC and a pathogenic TSC1 or TSC2 mutation (TSC mutation), an unclassified variant (UV) or no mutation identified (NMI) are indicated. a. Results of conventional molecular testing in individuals with definite TSC [12]. b. Results of targeted NGS of the TSC1 and TSC2 loci in individuals classified as TSC NMI after conventional molecular testing (this study).

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