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Frequencies and Patterns of Deleterious Variants in the Largest Cohort of Patients Referred for Diagnostic MECP2 Genotyping

ASHG 2020: American Society of Human Genetics Annual Meeting
Virtual [in-person conference canceled], October 27-31, 2020

Frequencies and patterns of deleterious variants in the largest cohort of patients referred for diagnostic MECP2 genotyping

Authors: Wan M, Buller-Burckle A, Quan F, Owen R, Ilagan BJ, Ghaffari G, Zhang Q, Oddoux C, Cai G, Vo T,Ito M, Wang G, Tsao D, Nery CR, Rion JR, Chen R, Zhang K, Daniel S, Lacbawan FL

Specialties: genetics, neurology