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74. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. Assoum M; Philippe C; Isidor B; Perrin L; Makrythanasis P; Sondheimer N; Paris C; Douglas J; Lesca G; Antonarakis S; Hamamy H; Jouan T; Duffourd Y; Auvin S; Saunier A; Begtrup A; Nowak C; Chatron N; Ville D; Mireskandari K; Milani P; Jonveaux P; Lemeur G; Milh M; Amamoto M; Kato M; Nakashima M; Miyake N; Matsumoto N; Masri A; Thauvin-Robinet C; Rivière JB; Faivre L; Thevenon J Am J Hum Genet; 2016 Dec; 99(6):1368-1376. PubMed ID: 27889060 [TBL] [Abstract][Full Text] [Related]
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