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A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred

BACKGROUND: Hearing loss/deafness is a common otological disorder found in the Pakistani population due to the high prevalence of consanguineous unions, but the full range of genetic causes is still unknown. METHODS: A large consanguineous Pakistani kindred with hearing loss was studied. Whole-exome...

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Detalles Bibliográficos
Autores principales:	Ahmed, Ashfaque, Wang, Meng, Khan, Rizwan, Shah, Abid Ali, Guo, Hui, Malik, Sajid, Xia, Kun, Hu, Zhengmao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784026/ https://www.ncbi.nlm.nih.gov/pubmed/33397372 http://dx.doi.org/10.1186/s12920-020-00859-x

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