Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.S162_M163insFs
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GJB2

NM_004004.6:p.S162_M163insFs

Associated Papers

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

Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings.

Iliades T et al.

Orl; Journal for Oto-rhino-laryngology and Its Related Specialties, 0

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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."