|
rs111033303
|
|
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 |
|
rs111033303
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
|
24224479 |
2014 |
|
rs111033303
|
|
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 |
|
rs111033303
|
|
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 |
|
rs111033303
|
|
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 |
|
rs111033303
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.
|
19509082 |
2009 |
|
rs111033303
|
|
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 |
|
rs111033303
|
|
Pendred's syndrome
|
|
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 |
|
rs111033303
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
|
18285825 |
2008 |
|
rs111033303
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
|
17503324 |
2007 |
|
rs111033303
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
|
16570074 |
2006 |
|
rs111033303
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
|
15689455 |
2005 |
|
rs111033303
|
|
Pendred's syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
|
15689455 |
2005 |
|
rs111033303
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
|
16283880 |
2005 |
|
rs111033303
|
|
Pendred's syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
|
15531480 |
2004 |
|
rs111033303
|
|
Pendred's syndrome
|
|
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 |
|
rs111033303
|
|
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 |
|
rs111033303
|
|
Pendred's syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
|
rs111033303
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
|
rs111033303
|
|
Pendred's syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
|
12788906 |
2003 |
|
rs111033303
|
|
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 |
|
rs111033303
|
|
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 |
|
rs111033303
|
|
Pendred's syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.
|
12974744 |
2003 |
|
rs111033303
|
|
Pendred's syndrome
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
|
11919333 |
2002 |
|
rs111033303
|
|
Pendred's syndrome
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
|
11932316 |
2002 |