Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.V13fs
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GJB2

NM_004004.6:p.V13fs

Associated Papers

Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population.

Lee YH et al.

Genes, 2023

37107638 (PubMed )
Supplement: genes-14-00880-s001.zip › genes-2290782-supplementary.pdf

Hereditary deafness carrier screening in 9,993 Chinese individuals.

Liu Y et al.

Frontiers in Genetics, 2023

38274112 (PubMed )
Supplement: Table1.XLSX › Table_S2_Variant_spectrum_of_GJ

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.

Riza AL et al.

Genes, 2022

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

Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria.

Lasisi AO et al.

International Journal of Pediatric Otorhinolaryngology, 2014

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf.

Tekin M et al.

Annals of Human Genetics, 2010

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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."