rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.
|
29546359 |
2018 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Genetics of hearing loss in the Arab population of Northern Israel.
|
30139988 |
2018 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
|
27771369 |
2017 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
|
28964290 |
2017 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
|
28281779 |
2017 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
|
26763877 |
2016 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
|
24051746 |
2013 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive.
|
20108392 |
2010 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).
|
20597900 |
2010 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
|
19204907 |
2009 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Heterogeneity in the processing defect of SLC26A4 mutants.
|
18310264 |
2008 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
|
14679580 |
2004 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
|
12676893 |
2003 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
|
14508505 |
2003 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
|
11748854 |
2001 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.
|
10700480 |
2000 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
|
10861298 |
2000 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.
|
10190331 |
1999 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in PDS causes non-syndromic recessive deafness.
|
9500541 |
1998 |
rs111033308
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
A mutation in PDS causes non-syndromic recessive deafness.
|
9500541 |
1998 |
rs111033308
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
|
25788563 |
2015 |
rs111033308
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
|
26445815 |
2015 |
rs111033308
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
|
25372295 |
2014 |
rs111033308
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.
|
25373420 |
2014 |
rs111033308
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.
|
23918157 |
2013 |