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

Abstract 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 conf...

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Dades bibliogràfiques

Autors principals:	Yan Sun, Wei Li, Jian‐kang Li, Zhuo‐shi Wang, Jin‐yue Bai, Ling Xu, Bo Xing, Wen Yang, Zi‐wei Wang, Lu‐sheng Wang, Wei He, Fang Chen
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2020-04-01
Col·lecció:	Molecular Genetics & Genomic Medicine
Matèries:	compound heterozygous digenic inheritance panel‐based targeted exome sequencing retinitis pigmentosa
Accés en línia:	https://doi.org/10.1002/mgg3.1184
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