Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.L146P
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GJB3

NM_024009.3:p.L146P

Associated Papers

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.

Lerat J et al.

Molecular Genetics & Genomic Medicine, 2019

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.

Sampaio-Silva J et al.

Annals of Human Genetics, 2018

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Miyagawa M et al.

Plos One, 2013

23967202 (PubMed )
Supplement: pone.0071381.s004.pdf
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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."