|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Germline and gonosomal mosaicism in the ATR-X syndrome.
|
10602370 |
1999 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.
|
10570185 |
1999 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Mutations in the chromatin-associated protein ATRX.
|
18409179 |
2008 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Alpha thalassaemia-mental retardation, X linked.
|
16722615 |
2006 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Germline and gonosomal mosaicism in the ATR-X syndrome.
|
10602370 |
1999 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.
|
10570185 |
1999 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Alpha thalassaemia-mental retardation, X linked.
|
16722615 |
2006 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Carpenter-Waziri syndrome results from a mutation in XNP.
|
10398237 |
1999 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.
|
21653732 |
2011 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
CausalMutation
|
group |
CLINVAR |
ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells.
|
19005673 |
2009 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.
|
24289169 |
2014 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.
|
28371197 |
2017 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
CausalMutation
|
group |
CLINVAR |
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
|
1415255 |
1992 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.
|
12673795 |
2003 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
CausalMutation
|
group |
CLINVAR |
ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.
|
11015451 |
2000 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).
|
12032728 |
2002 |
|
| Entrez Id: |
546 |
| Gene Symbol: |
ATRX |
ATRX
|
0.100 |
GeneticVariation
|
group |
CLINVAR |
Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).
|
12032728 |
2002 |