Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.R98W
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GJB2

NM_004004.6:p.R98W

Associated Papers

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

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population.

Vallian Broojeni J et al.

Plos One, 2023

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Adadey SM et al.

Life (basel, Switzerland), 2020

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_5

Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.

Kim SY et al.

Plos One, 2015

Compound heterozygosity of the novel c.292C>T (p.R98W) and the c.35delG GJB2 mutations in postlingual, non-syndromic, sensorineural deafness.

Petersen MB et al.

International Journal of Pediatric Otorhinolaryngology, 2012

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