Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.M1_D2insFs
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GJB2

NM_004004.6:p.M1_D2insFs

Associated Papers

The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.

Alkhidir S et al.

Scientific Reports, 2024

38378725 (PubMed )
Supplement: 41598_2024_52784_MOESM2_ESM.docx

A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.

Behlouli A et al.

International Journal of Pediatric Otorhinolaryngology, 2016

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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."