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Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population

Autosomal recessive non-syndromic hearing loss (ARNSHL) is a public health concern in the Iranian population, with an incidence of 1 in 166 live births. In the present study, the whole exome sequencing (WES) method was applied to identify the mutation spectrum of NSHL patients negative for GJB2 gene...

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Detalles Bibliográficos
Autores principales: Vallian Broojeni, Jalal, Kazemi, Arezu, Rezaei, Halimeh, Vallian, Sadeq
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10414579/
https://www.ncbi.nlm.nih.gov/pubmed/37561809
http://dx.doi.org/10.1371/journal.pone.0289247