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Genetic and clinical findings of panel‐based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa

BACKGROUND: Panel‐based targeted exome sequencing was used to analyze the genetic and clinical findings of targeted genes in a cohort of northeast Chinese with retinitis pigmentosa. METHODS: A total of 87 subjects, comprising 23 probands and their family members (total patients: 32) with confirmed r...

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Detalles Bibliográficos
Autores principales: Sun, Yan, Li, Wei, Li, Jian‐kang, Wang, Zhuo‐shi, Bai, Jin‐yue, Xu, Ling, Xing, Bo, Yang, Wen, Wang, Zi‐wei, Wang, Lu‐sheng, He, Wei, Chen, Fang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196472/
https://www.ncbi.nlm.nih.gov/pubmed/32100970
http://dx.doi.org/10.1002/mgg3.1184