Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.K168_C169insFs
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GJB2

NM_004004.6:p.K168_C169insFs

Associated Papers

Mutation spectrum of GJB2, SLC26A4 and mtDNA12SrRNA genes in non-syndromic hearing loss patients from Gansu, China.

Duan S et al.

International Journal of Pediatric Otorhinolaryngology, 2025

The deafness-causing mutation c.508_511dup in the GJB2 gene and a literature review.

Zhu YM et al.

Acta Oto-laryngologica, 2015

Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China.

Duan SH et al.

Acta Oto-laryngologica, 2015

Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.

Li Q et al.

Chinese Medical Journal, 2014

Common molecular etiology of patients with nonsyndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China.

Yang XL et al.

Acta Oto-laryngologica, 2013

[Molecular etiology of 573 patients with nonsyndromic hearing loss in 5 provinces of northwest region of China].

Zhu Q et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2007

Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

Lin D et al.

Human Mutation, 2001

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

Kenneson A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China.

Bian P et al.

Inquiry : a Journal of Medical Care Organization, Provision and Financing, 0

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