Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of the Initiative on Rare and Undiagnosed Diseases (IRUD) (TO...

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Detalles Bibliográficos
Autores principales: Narita, Kotaro, Muramatsu, Hideki, Narumi, Satoshi, Nakamura, Yuji, Okuno, Yusuke, Suzuki, Kyogo, Hamada, Motoharu, Yamaguchi, Naoya, Suzuki, Atsushi, Nishio, Yosuke, Shiraki, Anna, Yamamori, Ayako, Tsumura, Yusuke, Sawamura, Fumi, Kawaguchi, Masahiro, Wakamatsu, Manabu, Kataoka, Shinsuke, Kato, Kohji, Asada, Hideyuki, Kubota, Tetsuo, Muramatsu, Yukako, Kidokoro, Hiroyuki, Natsume, Jun, Mizuno, Seiji, Nakata, Tomohiko, Inagaki, Hidehito, Ishihara, Naoko, Yonekawa, Takahiro, Okumura, Akihisa, Ogi, Tomoo, Kojima, Seiji, Kaname, Tadashi, Hasegawa, Tomonobu, Saitoh, Shinji, Takahashi, Yoshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9418234/
https://www.ncbi.nlm.nih.gov/pubmed/36028527
http://dx.doi.org/10.1038/s41598-022-14161-6

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