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

Mohammed A. AlMuhaizea, Rawan Almass, Aljouhra AlHargan, Anoud Albader, Eva Medico Salsench, Jude Howaidi, Jacie Ihinger, Peter Karachunski, Amber Begtrup, Monica Segura Castell, Peter Bauer, Aida M. Bertoli‐Avella, Ibrahim H. Kaya, Jumanah Al-Sufayan, Laila AlQuait, Aziza Chedrawi, Stefan T. Arold, Dilek Çolak, Tahsin Stefan Barakat, Namik Kaya

2020Acta Neuropathologica26 citationsDOIOpen Access PDF

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Erasmus+Library scienceResearch centerMicrocephalyMedicinePolitical scienceFamily medicinePsychiatryComputer sciencePathologyArtThe RenaissanceArt historyAutophagy in Disease and TherapyGenetics and Neurodevelopmental DisordersCRISPR and Genetic Engineering
Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy | Litcius