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Paper Details

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing.
J Hum Genet
41
2019
12-kb structural variation, CLN6 gene, GC-rich region, initiation codon, multiple repetitive elements, neurodegenerative, neuronal ceroid lipofuscinosis, progressive myoclonic epilepsy
Author NameAffiliation
Katsushi TokunagaGraduate School of Medicine, The University of Tokyo
Yosuke KawaiGraduate School of Medicine, The University of Tokyo
Kengo KinoshitaTohoku University
Kengo KinoshitaAdvanced Research Center for Innovations in Next-Generation Medicine, Tohoku University
Kengo KinoshitaTohoku University
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