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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
A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy dataChinen, Yasutsugu; Yanagi, Kumiko; Nakamura, Sadao; Nakayama, Noriko; Kamiya, Motoko; Nakayashiro, Mami; Kaname, Tadashi; Naritomi, Kenji; Nakanishi, Koichi16-Apr-2020

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