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Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways

Jing Guan, Jin Li, Guohui Chen, Tao Shi, Lan Lan, Xiaonan Wu, Cui Zhao, Dayong Wang, Hongyang Wang, Qiuju Wang

2021European Journal of Medical Genetics21 citationsDOI

Topics & Concepts

Exome sequencingGeneticsProbandGenetic heterogeneityBiologyCopy-number variationPhenotypeHearing lossExomeGeneMutationMedicineGenomeAudiologyHearing, Cochlea, Tinnitus, GeneticsEar Surgery and Otitis MediaVestibular and auditory disorders
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways | Litcius