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Article

Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.

Biochemical genetics - 1 Dec 2017

Shaikh Hina, Waryah Ali M, Narsani Ashok K, Iqbal Muhammad, Shahzad Mohsin, Waryah Yar M, Shaikh Naila, Mahmood Amber

Abstract excerpt

CIB2 and GJB2 genes variants contribute significantly in familial cases of prelingual recessive hearing loss (HL). This study was aimed to determine the CIB2 and GJB2 variants and associated phenotype in 150 non-familial individuals with HL. After getting informed consent, 150 non-familial deaf patients were enrolled and blood samples were obtained for DNA extraction. Pure tone air conduction audiometry was...

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Identifiers

PMID: 29086887
DOI: 10.1007/s10528-017-9828-3

Genes

CIB2
GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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