Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan.
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ABSTRACT:
SUBMITTER: Ramzan M
PROVIDER: S-EPMC7368073 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Publications
Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan.
Ramzan Memoona M Bashir Rasheeda R Salman Midhat M Mujtaba Ghulam G Sobreira Nara N Witmer P Dane PD Naz Sadaf S
Scientific reports 20200717 1
Hearing loss affects 380 million people worldwide due to environmental or genetic causes. Determining the cause of deafness in individuals without previous family history of hearing loss is challenging and has been relatively unexplored in Pakistan. We investigated the spectrum of genetic variants in hearing loss in a cohort of singleton affected individuals born to consanguineous parents. Twenty-one individuals with moderate to severe hearing loss were recruited. We performed whole-exome sequen ...[more]
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