Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.K168_C169insFs
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GJB2

NM_004004.6:p.K168_C169insFs

Associated Papers

Phenotype-genotype correlation in 295 Chinese deaf subjects with biallelic causative mutations in the GJB2 gene.

Zhao FF et al.

Genetic Testing and Molecular Biomarkers, 2011

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.

Gardner P et al.

Pediatrics, 2006

Guidelines and recommendations for testing of Cx26 mutations and interpretation of results.

Mazzoli M et al.

International Journal of Pediatric Otorhinolaryngology, 2004

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.

Ohtsuka A et al.

Human Genetics, 2003

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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."