|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
|
28964290 |
2017 |
|
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 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
|
26763877 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.
|
24599119 |
2014 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.
|
25266519 |
2014 |
|
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 |
|
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 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Salicylate restores transport function and anion exchanger activity of missense pendrin mutations.
|
20826203 |
2010 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.
|
10190331 |
1999 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A mutation in PDS causes non-syndromic recessive deafness.
|
9500541 |
1998 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|