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TitleAuthors Date of Issue
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformationChinen, Yasutsugu; Nakamura, Sadao; Kaneshi, Takuya; Nakayashiro, Mami; Yanagi, Kumiko; Kaname, Tadashi; Naritomi, Kenji; Nakanishi, Koichi13-May-2019

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