Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
|
23638949 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
|
23965030 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
CausalMutation |
CLINVAR |
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
|
23336812 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.
|
24341454 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
|
23638949 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.
|
23705809 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.
|
23273637 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
|
24051746 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.
|
23385134 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Significance of unilateral enlarged vestibular aqueduct.
|
23401162 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Etiology and audiological outcomes at 3 years for 364 children in Australia.
|
23555729 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.
|
23273637 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes.
|
23266159 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
SLC26A4 mutations in patients with moderate to severe hearing loss.
|
23504402 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
|
23336812 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings.
|
23151031 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Etiology and audiological outcomes at 3 years for 364 children in Australia.
|
23555729 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Anion translocation through an Slc26 transporter mediates lumen expansion during tubulogenesis.
|
23980138 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.
|
23838540 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
|
23965030 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.
|
23918157 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.
|
23918157 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
The effect of GJB2 and SLC26A4 gene mutations on rehabilitative outcomes in pediatric cochlear implant patients.
|
23296490 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
GeneticVariation |
CLINVAR |
Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.
|
23705809 |
2013 |
Entrez Id: |
5172 |
Gene Symbol: |
SLC26A4 |
SLC26A4
|
Pendred's syndrome
|
1.000 |
CausalMutation |
CLINVAR |
Novel mutations in the SLC26A4 gene.
|
22717225 |
2012 |