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A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.
Watanabe, Kazuki; Kubota, Kazuo; Nakashima, Mitsuko; Saitsu, Hirotomo.
Afiliación
  • Watanabe K; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Kubota K; Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
  • Nakashima M; Division of Clinical Genetics, Gifu University Hospital, Gifu, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. mnakashi@hama-med.ac.jp.
Hum Genome Var ; 10(1): 30, 2023 Nov 22.
Article en En | MEDLINE | ID: mdl-37993422
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Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2023 Tipo del documento: Article País de afiliación: Japón
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2023 Tipo del documento: Article País de afiliación: Japón