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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Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: Wiley 2020-04-01
Schriftenreihe:Molecular Genetics & Genomic Medicine
Schlagworte:
compound heterozygous
digenic inheritance
panel‐based targeted exome sequencing
retinitis pigmentosa
Online Zugang:https://doi.org/10.1002/mgg3.1184
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