Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
Jianyan Pan, Shanshan Ma, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu
Topics & Concepts
ProbandHearing lossGeneticsExome sequencingBiologyCopy-number variationIndelGenetic testingCandidate geneGenetic heterogeneityGeneMutationAudiologyMedicineGenotypeSingle-nucleotide polymorphismGenomePhenotypeHearing, Cochlea, Tinnitus, GeneticsGenomics and Rare DiseasesGenetic Neurodegenerative Diseases