|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
GeneticVariation |
CLINVAR |
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
|
29077208 |
2018 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
CausalMutation |
CLINVAR |
Identification of TAZ mutations in pediatric patients with cardiomyopathy by targeted next-generation sequencing in a Chinese cohort.
|
28183324 |
2017 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
CausalMutation |
CLINVAR |
Cardiomyopathy in a male patient with neutropenia and growth delay.
|
24887148 |
2014 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
CausalMutation |
CLINVAR |
Natural history of Barth syndrome: a national cohort study of 22 patients.
|
23656970 |
2013 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
CausalMutation |
CLINVAR |
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.
|
23361305 |
2013 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
CausalMutation |
CLINVAR |
New clinical and molecular insights on Barth syndrome.
|
23409742 |
2013 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
GeneticVariation |
CLINVAR |
Barth syndrome mutations that cause tafazzin complex lability.
|
21300850 |
2011 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
CausalMutation |
CLINVAR |
Barth syndrome mutations that cause tafazzin complex lability.
|
21300850 |
2011 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
CausalMutation |
CLINVAR |
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.
|
20812380 |
2010 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
CausalMutation |
CLINVAR |
X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene.
|
16548007 |
2006 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
CausalMutation |
CLINVAR |
Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome.
|
16873891 |
2006 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
CausalMutation |
CLINVAR |
Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins.
|
16880272 |
2006 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
CausalMutation |
CLINVAR |
Mutations have been identified in the TAZ ( G4.5) gene in patients with BTHS.
|
12032589 |
2002 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
GeneticVariation |
CLINVAR |
Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.
|
11238270 |
2001 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
CausalMutation |
CLINVAR |
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.
|
9382096 |
1997 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
GeneticVariation |
CLINVAR |
Mutation characterization and genotype-phenotype correlation in Barth syndrome.
|
9345098 |
1997 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
CausalMutation |
CLINVAR |
Mutation characterization and genotype-phenotype correlation in Barth syndrome.
|
9345098 |
1997 |
|
| Entrez Id: |
6901 |
| Gene Symbol: |
TAZ |
TAZ
|
3-Methylglutaconic aciduria type 2
|
0.800 |
GeneticVariation |
CLINVAR |
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.
|
1719174 |
1991 |