|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
|
31160754 |
2019 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
|
26749107 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
|
26749107 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
|
26896187 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.
|
27169813 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.
|
27247933 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
|
26444186 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
|
26763877 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A Mayan founder mutation is a common cause of deafness in Guatemala.
|
26346709 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province.
|
27534436 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients.
|
26778469 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.
|
26896187 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.
|
27623246 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
|
25388846 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family.
|
25708704 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
|
25388846 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss.
|
26553399 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.
|
26096904 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.
|
25625422 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
The deafness-causing mutation c.508_511dup in the GJB2 gene and a literature review.
|
25891447 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples.
|
26482070 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China.
|
26095810 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan.
|
25636251 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.
|
26397989 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene.
|
26088551 |
2015 |