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Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.

Panpan MaBingbo ZhouQichao KangXue ChenXinyuan TianLing HuiShengju HaoHuiyan WuChuan Zhang
Published in: Molecular genetics & genomic medicine (2024)
Our study expanded the spectrum of deafness gene variation, which will contribute to the genetic diagnosis, prenatal diagnosis and the procreation guidance of deaf couple. In addition, the deafness caused by two genes should be paid attention to in the prenatal diagnosis of families with both deaf patients.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • chronic kidney disease
  • genome wide
  • copy number
  • dna methylation
  • gene expression
  • patient reported outcomes
  • transcription factor
  • genome wide identification