Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes.

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作者： Tamar,Hayman ^[1] ; Talya,Millo ^[1] ; Karen,Hendler ^[1] ; Itay,Chowers ^[1] ; Menachem,Gross ^[2] ; Eyal,Banin ^[1] ; Dror,Sharon ^[3]

作者单位： Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel. ^[1] Otolaryngology/Head and Neck Surgery, Hadassah Medical Center, Jerusalem, Jerusalem, Israel. ^[2] Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel dror.sharon1@mail.huji.ac.il. ^[3]

关键词 genetic diseases, inborn genetic heterogeneity genetic testing genetics genomics

主题词人类(Humans);视网膜疾病(Retinal Diseases);序列分析, DNA(Sequence Analysis, DNA);DNA(DNA);DNA拷贝数变异(DNA Copy Number Variations)

DOI 10.1136/jmg-2023-109482

PMID 37798099

发布时间 2024-02-23

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准确一般字义偏差语意偏离译文作用小提交