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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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2020-12-01T00:00:00Z
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Goncu, BEYZA
Aslanger, A.
Ozgul, C.
Hasanoglu, S.
Yesil, G.
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YÜCESAN E., Goncu B., Aslanger A., Ozgul C., Hasanoglu S., Yesil 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 JOURNAL OF HUMAN GENETICS, cilt.28, ss.344-345, 2020
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