Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.L213*
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GJB2

NM_004004.6:p.L213*

Associated Papers

Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.

Tsai CY et al.

Computational and Structural Biotechnology Journal, 2023

38074473 (PubMed )
Supplement: mmc1.docx

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family.

Gonçalves AC et al.

International Journal of Pediatric Otorhinolaryngology, 2013

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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."