Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

Francesca Mattioli, Bertrand Isidor, Omar Abdul-Rahman, Andrew Gunter, Lijia Huang, Raman Kumar, Chandree Beaulieu, Jozef Gecz, Micheil Innes, Jean Louis Mandel, Amelie Piton

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Biochemistry, Genetics and Molecular Biology

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