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Whole Genome Sequencing of 45 Japanese Patients with Intellectual Disability.

Chihiro Abe-Hatano,Aritoshi Iida,Shunichi Kosugi,Yukihide Momozawa,Chikashi Terao,Keiko Ishikawa,Mariko Okubo,Yasuo Hachiya,Hiroya Nishida,Kazuyuki Nakamura,Rie Miyata, Chie Murakami,Kan Takahashi,Kyoko Hoshino,Haruko Sakamoto,Sayaka Ohta,Masaya Kubota,Eri Takeshita,Akihiko Ishiyama,Eiji Nakagawa,Masayuki Sasaki,Mitsuhiro Kato,Naomichi Matsumoto,Yoichiro Kamatani,Michiaki Kubo,Yoshiyuki Takahashi,Jun Natsume,Ken Inoue,Yu-Ichi Goto

American journal of medical genetics Part A（2021）

引用 13|浏览18
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关键词
intellectual disability,intellectual disability&#8208,associated gene,likely pathogenic variant,pathogenic variant,whole genome sequencing
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