Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.E209*
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GJB2

NM_004004.6:p.E209*

Associated Papers

Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss.

Sarmadi A et al.

Molecular Biology Reports, 2020

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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."