rs137852999
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
|
11424922 |
2001 |
rs137852999
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
|
12393794 |
2002 |
rs137852999
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
|
11907649 |
2002 |
rs137852999
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
|
11462234 |
2001 |
rs137852999
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
|
16021470 |
2005 |
rs137852999
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137852999
|
|
|
0.800 |
GeneticVariation |
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 |
rs137853000
|
|
|
0.800 |
GeneticVariation |
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 |
rs137853000
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
|
12393794 |
2002 |
rs137853000
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs137853000
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
|
11907649 |
2002 |
rs137853000
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
|
11424922 |
2001 |
rs137853000
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
|
11462234 |
2001 |
rs137853000
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
|
16021470 |
2005 |
rs28939084
|
|
|
0.800 |
GeneticVariation |
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 |
rs28939084
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
|
11907649 |
2002 |
rs28939084
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs28939084
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
|
11462234 |
2001 |
rs28939084
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
|
11424922 |
2001 |
rs28939084
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
|
16021470 |
2005 |
rs28939084
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
|
12393794 |
2002 |
rs387906915
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
|
16021470 |
2005 |
rs387906915
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
|
11462234 |
2001 |
rs387906915
|
|
|
0.800 |
GeneticVariation |
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 |
rs387906915
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|