Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.W77fs
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GJB6

NM_001110219.3:p.W77fs

Associated Papers

Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.

He J et al.

Open Life Sciences, 2024

Variant analysis of 92 Chinese Han families with hearing loss.

Jin X et al.

Bmc Medical Genomics, 2022

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Yu X et al.

Orphanet Journal of Rare Diseases, 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."