|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Cx26 deafness: mutation analysis and clinical variability.
|
10544226 |
1999 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
|
14694360 |
2004 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Comprehensive diagnostic battery for evaluating sensorineural hearing loss in children.
|
21131880 |
2011 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis.
|
26749107 |
2016 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
The structural context of disease-causing mutations in gap junctions.
|
16864573 |
2006 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
|
12172394 |
2002 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
|
14985372 |
2004 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG.
|
20815033 |
2010 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.
|
20708129 |
2010 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes.
|
23266159 |
2013 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.
|
20381175 |
2010 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Connexin mutations in deafness.
|
9716127 |
1998 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Spectrum of CFTR gene mutations in Iranian Azeri Turkish patients with cystic fibrosis.
|
21198395 |
2011 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.
|
23695287 |
2013 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
|
25388846 |
2015 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
|
19366456 |
2009 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.
|
15146474 |
2004 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family.
|
25708704 |
2015 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss.
|
18472371 |
2008 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.
|
16222667 |
2005 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
|
20146813 |
2010 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.
|
22668073 |
2012 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.
|
18758381 |
2008 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily.
|
26096904 |
2015 |
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
0.900 |
CausalMutation |
CLINVAR |
Cellular mechanisms of mutant connexins in skin disease and hearing loss.
|
14681040 |
2004 |