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TBC1D24 genotype-phenotype correlation: epilepsies and other neurologic features

Koc University Digital Collections · Papers
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activationhearing-lossimpairmentmedical-geneticsmedicinemutationneurodegenerationproteins
Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24. Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd
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