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Article

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

PloS one - 1 Jan 2021

Kausar Nabila, Haque Asma, Masoud Muhammad Shareef, Nahid Nazia, Ashfaq Usman Ali, Waryah Ali Muhammad, Bhatti Rashid, Qasim Muhammad

Abstract excerpt

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 hearing loss (ARNSHL) in several populations worldwide. This study was carried out to investigate the prevalence of...

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Identifiers

PMID: 34695157
DOI: 10.1371/journal.pone.0259083
PMCID: PMC8544867

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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