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Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy

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YÜCESAN, EMRAH

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2020-06-09T00:00:00Z

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Conference Paper

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YÜCESAN E., Göncü B., ASLANGER A. D. , Hasanoğlu S., YEŞİL SAYIN G., -Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy-, European Human Genetics Conference, 6 - 09 Haziran 2020

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http://hdl.handle.net/20.500.12645/27534

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