Genetic & Genomic MedicinemedRxivPreprint
Duplication within 14q32.13 implicates a chimeric CLMN::SYNE3 RNA transcript in cerebellar ataxia
Thomas M Litster, Robert A. Wilcox, Renée Carroll…·Jozef Gécz
The paper identifies a chimeric CLMN::SYNE3 RNA transcript from a 14q32.13 duplication as the cause of SCA30, a form of cerebellar ataxia, through RNA-Seq and functional studies.
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