Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.L10delFs
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GJB4

NM_153212.3:p.L10delFs

Associated Papers

Trafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutants.

Xia K et al.

Protein & Cell, 2010

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.

Fuse Y et al.

Neuroreport, 1999

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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."