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Identifying a novel frameshift pathogenic variant in a Chinese family with neurofibromatosis type 1 and review of literature.
Guo, Xiao-Hui; Jin, Xin; Wang, Bin; Wang, Zhao-Yan.
Afiliación
  • Guo XH; Senior Department of Ophthalmology, the Third Medical Center of PLA General Hospital, Beijing 100039, China.
  • Jin X; Senior Department of Ophthalmology, the Third Medical Center of PLA General Hospital, Beijing 100039, China.
  • Wang B; Department of Otolaryngology, Peking Union Medical College Hospital, Beijing 100730, China.
  • Wang ZY; Senior Department of Ophthalmology, the Third Medical Center of PLA General Hospital, Beijing 100039, China.
Int J Ophthalmol ; 16(1): 47-52, 2023.
Article en En | MEDLINE | ID: mdl-36659944
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Int J Ophthalmol Año: 2023 Tipo del documento: Article País de afiliación: China
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Int J Ophthalmol Año: 2023 Tipo del documento: Article País de afiliación: China