Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.S17_T18Fs
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GJB2

NM_004004.6:p.S17_T18Fs

Associated Papers

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

Ohtsuka A et al.

Human Genetics, 2003

Inherited connexin mutations associated with hearing loss.

Avraham KB

Cell Communication & Adhesion, 2001

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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."