GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.

Okano, Satomi; Makita, Yoshio; Miyamoto, Akie; Taketazu, Genya; Kimura, Kayano; Fukuda, Ikue; Tanaka, Hajime; Yanagi, Kumiko; Kaname, Tadashi

Okano, Satomi; Makita, Yoshio; Miyamoto, Akie; Taketazu, Genya; Kimura, Kayano; Fukuda, Ikue; Tanaka, Hajime; Yanagi, Kumiko; Kaname, Tadashi.

Afiliação

Okano S; Department of Pediatrics, Asahikawa Habilitation Center for Children, Hokkaido, Japan.
Makita Y; Department of Genetic Counseling, Asahikawa Medical University Hospital, Hokkaido, Japan. makita5p@asahikawa-med.ac.jp.
Miyamoto A; Department of Pediatrics, Asahikawa Habilitation Center for Children, Hokkaido, Japan.
Taketazu G; Department of Pediatrics, Asahikawa Kosei Hospital, Hokkaido, Japan.
Kimura K; Department of Pediatrics, Asahikawa Habilitation Center for Children, Hokkaido, Japan.
Fukuda I; Department of Pediatrics, Asahikawa Habilitation Center for Children, Hokkaido, Japan.
Tanaka H; Department of Pediatrics, Asahikawa Habilitation Center for Children, Hokkaido, Japan.
Yanagi K; Department of Genome Medicine, National Institute for Child Health and Development, Tokyo, Japan.
Kaname T; Department of Genome Medicine, National Institute for Child Health and Development, Tokyo, Japan.

Hum Genome Var ; 10(1): 4, 2023 Feb 02.

Article em En | MEDLINE | ID: mdl-36726007

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hum Genome Var Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão País de publicação: Reino Unido

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