Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.C180Y
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GJB2

NM_004004.6:p.C180Y

Associated Papers

Genetic screening for hearing loss of 38,589 neonates with follow-up in South China.

Gu X et al.

Human Genomics, 2025

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Tollefson MR et al.

Human Genetics, 2023

37086329 (PubMed )
Supplement: 439_2023_2559_MOESM3_ESM.xlsx › Sheet1

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

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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."