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

Molecular genetics & genomic medicine - 1 Apr 2020

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

Abstract excerpt

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 retinitis pigmentosa were recruited in the study. Panel-based targeted exome sequencing was used to sequence the...

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Aged, 80 and over
China
Exome
Extracellular Matrix Proteins
Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Testing

Microtubule-Associated Proteins

Retinitis Pigmentosa

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PMID: 32100970
DOI: 10.1002/mgg3.1184
PMCID: PMC7196472

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