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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

Mohammed AlMuhaizea,Rawan AlMass,Aljouhra AlHargan,Anoud AlBader,Eva Medico Salsench, Jude Howaidi,Jacie Ihinger,Peter Karachunski,Amber Begtrup,Monica Segura Castell,Peter Bauer,Aida Bertoli-Avella,Ibrahim H. Kaya,Jumanah AlSufayan,Laila AlQuait, Aziza Chedrawi,Stefan T. Arold,Dilek Colak,Tahsin Stefan Barakat,Namik Kaya

Acta Neuropathologica（2020）

引用 18|浏览20
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关键词
progressive encephalopathy,mixed movement disorder,yif1b,mutations,epilepsy
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