Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.H100R
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GJB2

NM_004004.6:p.H100R

Associated Papers

Analyses of GJB2 status in hereditary and non-syndromic hearing loss cases in Turkey reveal pathogenicity of rare c.247_249delTTC variant.

Tümer S et al.

International Journal of Pediatric Otorhinolaryngology, 2026

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.

Abbaspour Rodbaneh E et al.

Journal of Clinical Laboratory Analysis, 2021

Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan.

Wang YC et al.

European Journal of Human Genetics : Ejhg, 2002

Natural Course of Residual Hearing with Reference to GJB2 and SLC26A4 Genotypes: Clinical Implications for Hearing Rehabilitation.

Lee SY et al.

Ear and Hearing, 0

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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."