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Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan

Hearing impairment (HI) is a highly heterogeneous genetic disorder and is classified into nonsyndromic (without any other clinical manifestations) and syndromic (if combined with other clinical presentations) forms. Variations in GJB2 gene are the leading cause of autosomal recessive nonsyndromic he...

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Detalles Bibliográficos
Autores principales: Kausar, Nabila, Haque, Asma, Masoud, Muhammad Shareef, Nahid, Nazia, Ashfaq, Usman Ali, Waryah, Ali Muhammad, Bhatti, Rashid, Qasim, Muhammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544867/
https://www.ncbi.nlm.nih.gov/pubmed/34695157
http://dx.doi.org/10.1371/journal.pone.0259083