De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality

Sakamoto, M; Sasaki, K; Sugie, A; Nitta, Y; Kimura, T; Gursoy, S; Cinleti, T; Iai, M; Sengoku, T; Ogata, K; Suzuki, A; Okamoto, N; Iwama, K; Tsuchida, N; Uchiyama, Y; Koshimizu, E; Fujita, A; Hamanaka, K; Miyatake, S; Mizuguchi, T; Taguri, M; Ito, S; Takahashi, H; Miyake, N; Matsumoto, N

Miyake, N (通讯作者)，Natl Ctr Global Hlth & Med, Res Inst, Dept Human Genet, Shinjuku Ku, 1-21-1 Toyama, Tokyo 1628655, Japan.;Miyake, N; Matsumoto, N (通讯作者)，Yokohama City Univ, Grad Sch Med, Kanazawa Ku, Dept Human Genet, 3-9 Fukuura, Yokohama, Kanagawa 2360004, Japan.

HUMAN MOLECULAR GENETICS, 2022; 31 (1): 69

Abstract

An optimal Golgi transport system is important for mammalian cells. The adenosine diphosphate (ADP) ribosylation factors (ARF) are key proteins for re......

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