Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.I118_E119insFs
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GJB2

NM_004004.6:p.I118_E119insFs

Associated Papers

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Baux D et al.

Scientific Reports, 2017

29196752 (PubMed )
Supplement: 41598_2017_16846_MOESM2_ESM.xlsx › Feuil1
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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."