rs104894415
|
Entrez Id: |
10804 |
Gene Symbol: |
GJB6 |
GJB6
|
Deafness, Autosomal Dominant 3B
|
T |
0.700 |
CausalMutation |
CLINVAR |
Immune system disturbances in Clouston syndrome.
|
26551294 |
2016 |
rs104894415
|
Entrez Id: |
10804 |
Gene Symbol: |
GJB6 |
GJB6
|
Deafness, Autosomal Dominant 3B
|
T |
0.700 |
CausalMutation |
CLINVAR |
[A gene study of a family with hidrotic ectodermal dysplasia].
|
27817781 |
2016 |
rs104894415
|
Entrez Id: |
10804 |
Gene Symbol: |
GJB6 |
GJB6
|
Deafness, Autosomal Dominant 3B
|
T |
0.700 |
CausalMutation |
CLINVAR |
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.
|
24514865 |
2014 |
rs104894415
|
Entrez Id: |
10804 |
Gene Symbol: |
GJB6 |
GJB6
|
Deafness, Autosomal Dominant 3B
|
T |
0.700 |
CausalMutation |
CLINVAR |
Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.
|
23981984 |
2013 |
rs104894415
|
Entrez Id: |
10804 |
Gene Symbol: |
GJB6 |
GJB6
|
Deafness, Autosomal Dominant 3B
|
T |
0.700 |
CausalMutation |
CLINVAR |
[Mutation analysis and first-trimester prenatal diagnosis for a Chinese family with hidrotic ectodermal dysplasia].
|
23926005 |
2013 |
rs104894415
|
Entrez Id: |
10804 |
Gene Symbol: |
GJB6 |
GJB6
|
Deafness, Autosomal Dominant 3B
|
T |
0.700 |
CausalMutation |
CLINVAR |
Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.
|
15769851 |
2005 |
rs104894415
|
Entrez Id: |
10804 |
Gene Symbol: |
GJB6 |
GJB6
|
Deafness, Autosomal Dominant 3B
|
T |
0.700 |
CausalMutation |
CLINVAR |
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
|
15213106 |
2004 |
rs104894415
|
Entrez Id: |
10804 |
Gene Symbol: |
GJB6 |
GJB6
|
Deafness, Autosomal Dominant 3B
|
T |
0.700 |
CausalMutation |
CLINVAR |
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.
|
12788524 |
2003 |
rs104894415
|
Entrez Id: |
10804 |
Gene Symbol: |
GJB6 |
GJB6
|
Deafness, Autosomal Dominant 3B
|
T |
0.700 |
CausalMutation |
CLINVAR |
Functional studies of human skin disease- and deafness-associated connexin 30 mutations.
|
12419304 |
2002 |
rs104894415
|
Entrez Id: |
10804 |
Gene Symbol: |
GJB6 |
GJB6
|
Deafness, Autosomal Dominant 3B
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
|
11017065 |
2000 |