De novo variants are a common cause of genetic hearing loss.

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作者： Miles J,Klimara ^[1] ; Carla,Nishimura ^[1] ; Donghong,Wang ^[1] ; Diana L,Kolbe ^[1] ; Amanda M,Schaefer ^[1] ; William D,Walls ^[1] ; Kathy L,Frees ^[1] ; Richard J H,Smith ^[2] ; Hela,Azaiez ^[3]

作者单位： Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, IA. ^[1] Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, IA. Electronic address: richard-smith@uiowa.edu. ^[2] Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, Roy J. and Lucille A. Carver College of Medicine University of Iowa, Iowa City, IA. Electronic address: Hela-azaiez@uiowa.edu. ^[3]

关键词 De novo?variant Deafness Genetic variant Hearing loss

主题词人类(Humans);听觉丧失(Hearing Loss);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);聋(Deafness);突变(Mutation);外显子(Exons);胞间信号肽类和蛋白质类(Intercellular Signaling Peptides and Proteins)

DOI 10.1016/j.gim.2022.08.028

PMID 36194208

发布时间 2024-09-23

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准确一般字义偏差语意偏离译文作用小提交