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Antisense oligonucleotide therapeutic approach for Timothy syndrome - Nature

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Antisense oligonucleotide therapeutic approach for Timothy syndrome - Nature

Timothy syndrome (TS) is a severe, multisystem disorder characterized by autism, epilepsy, long-QT syndrome and other neuropsychiatric conditions1. TS type 1 (TS1) is caused by a gain-of-function variant in the alternatively spliced and developmentally enriched CACNA1C exon 8A, as opposed to its counterpart exon 8.

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Antisense oligonucleotide therapeutic approach for Timothy syndrome - Nature

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Antisense oligonucleotide therapeutic approach for Timothy syndrome - Nature

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