Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.V84L
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GJB3

NM_024009.3:p.V84L

Associated Papers

The role of gene mutations and immune responses in sensorineural hearing loss.

Zhang X et al.

International Immunopharmacology, 2024

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Hoang Dinh E et al.

Brain Research, 2009

Gap-junction channels dysfunction in deafness and hearing loss.

Martínez AD et al.

Antioxidants & Redox Signaling, 2009

Functional analysis of connexin-26 mutants associated with hereditary recessive deafness.

Wang HL et al.

Journal of Neurochemistry, 2003

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

Bruzzone R et al.

Febs Letters, 2003

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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."