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Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families.

Xueshuang MeiYaqi ZhouMuhammad AmjadWeiqiang YangRufei ZhuMuhammad AsifHafiz Muhammad Jafar HussainTao YangFurhan IqbalHongyi Hu
Published in: Neural plasticity (2021)
Our results showed that the genetic causes of deafness are highly heterogeneous. Even within a single family, the affected members with apparently indistinguishable clinical phenotypes may have different pathogenic variants.
Keyphrases
  • copy number
  • genome wide
  • dna methylation
  • circulating tumor