×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
CausalMutation
disease
CLINVAR
Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.
28246597
2017
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
CausalMutation
disease
CLINVAR
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
26036852
2016
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
CausalMutation
disease
CLINVAR
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
24526180
2014
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
CausalMutation
disease
CLINVAR
Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.
23958653
2013
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
Biomarker
disease
GENOMICS_ENGLAND
Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression.
23255163
2013
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
CausalMutation
disease
CLINVAR
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.
22975204
2012
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
CausalMutation
disease
CLINVAR
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
21534946
2012
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
CausalMutation
disease
CLINVAR
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
21786053
2011
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
CausalMutation
disease
CLINVAR
Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity.
19170735
2009
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
CausalMutation
disease
CLINVAR
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
17551081
2007
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
CausalMutation
disease
CLINVAR
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
16283880
2005
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
GeneticVariation
disease
UNIPROT
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
16021470
2005
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
GeneticVariation
disease
UNIPROT
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
15447792
2004
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
CausalMutation
disease
CLINVAR
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
15447792
2004
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
GeneticVariation
disease
UNIPROT
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
11907649
2002
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
CausalMutation
disease
CLINVAR
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
11907649
2002
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
GeneticVariation
disease
UNIPROT
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
12393794
2002
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
GeneticVariation
disease
UNIPROT
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
11462234
2001
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
GeneticVariation
disease
UNIPROT
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
11424922
2001
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
0.700
GeneticVariation
disease
CLINVAR