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The position of pathogenic variants in NF2 affects the likelihood of developing a meningioma.
A. The Kaplan-Meier plot shows the risk of meningioma within each functional domain. Gene regions are divided into exons 1-3, 4-6, 7-9, 10-13, and 14-15.
B. The bar graph shows the overall risk for meningioma conferred by pathogenic variants in individual exons. 5′ regions confer a higher risk than 3′ regions and exons encoding the junctions between functional domains confer a higher relative risk than the rest of the domain.