Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.L79L
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GJB2

NM_004004.6:p.L79L

Associated Papers

Next-generation sequencing for genetic testing of hearing loss populations.

Wang L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China.

Qi M et al.

Birth Defects Research, 2021

Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.

Xiang YB et al.

International Journal of Pediatric Otorhinolaryngology, 2019

Mutation spectrum and hotspots of the common deafness genes in 314 patients with nonsyndromic hearing loss in Heze area, China.

Zhang M et al.

Acta Oto-laryngologica, 2019

Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.

Luo J et al.

Annals of Human Genetics, 2017

The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population.

Huang S et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.

Zhang F et al.

Biomed Research International, 2016

Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.

Gao Z et al.

Plos One, 2016

Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment.

Wu CC et al.

The Laryngoscope, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."