|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Predictive factors and outcomes of cochlear implantation in patients with connexin 26 mutation: a comparative study.
|
25270357 |
2015 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Two novel compound heterozygous families with a trimutation in the GJB2 gene causing sensorineural hearing loss.
|
26553399 |
2015 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
|
24774219 |
2014 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Unique spectrum of GJB2 mutations in Mexico.
|
22925408 |
2012 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.
|
22695344 |
2012 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Vestibular dysfunction in DFNB1 deafness.
|
21465647 |
2011 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children.
|
21112098 |
2011 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
GJB2 mutation spectrum in 209 hearing impaired individuals of predominantly Caribbean Hispanic and African descent.
|
20381175 |
2010 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Audiologic phenotype and progression in GJB2 (Connexin 26) hearing loss.
|
20083784 |
2010 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Deafness genes in Israel: implications for diagnostics in the clinic.
|
19390476 |
2009 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.
|
19366456 |
2009 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Audiologic and temporal bone imaging findings in patients with sensorineural hearing loss and GJB2 mutations.
|
19235794 |
2009 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.
|
19371219 |
2009 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
|
17666888 |
2007 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
|
15967879 |
2005 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
GJB2 mutations and degree of hearing loss: a multicenter study.
|
16380907 |
2005 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
|
15365987 |
2004 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary.
|
15146474 |
2004 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.
|
12865758 |
2004 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
|
14985372 |
2004 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Connexin-30 deletion analysis in connexin-26 heterozygotes.
|
12885339 |
2003 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
|
12172394 |
2002 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
|
11493200 |
2001 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).
|
11102979 |
2000 |
|
rs371024165
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|