Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.V200I
Back to variants list

GJB3

NM_024009.3:p.V200I

Associated Papers

Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.

Luo J et al.

Annals of Human Genetics, 2017

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › polymorphism

Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.

Alexandrino F et al.

American Journal of Medical Genetics. Part A, 2009

Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.

López-Bigas N et al.

Human Mutation, 2000

Etiology of unilateral hearing loss in a national hereditary deafness repository.

Dodson KM et al.

American Journal of Otolaryngology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."