Autor: Perez-Becerril, C., Burghel, G. J., Hartley, C., Rowlands, C. F., Evans, D. G., Smith, M. J.
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Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis
PurposeTo determine the impact of additional genetic screening techniques on the rate of detection of pathogenic variants leading to familial NF2-related schwannomatosis.MethodsWe conducted genetic screening of a cohort of 168 second-generation individ…