Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.
|
28371197 |
2017 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
|
28371217 |
2017 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
|
28371217 |
2017 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
|
28371217 |
2017 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
|
28371217 |
2017 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.
|
28371197 |
2017 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.
|
28371197 |
2017 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.
|
28371197 |
2017 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
|
24805811 |
2015 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
|
24805811 |
2015 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
|
24805811 |
2015 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
|
24805811 |
2015 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.
|
24289169 |
2014 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.
|
24289169 |
2014 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.
|
24289169 |
2014 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.
|
24289169 |
2014 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.
|
21653732 |
2011 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.
|
21653732 |
2011 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.
|
21653732 |
2011 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.
|
21653732 |
2011 |
Multiple congenital anomalies
|
|
0.700 |
CausalMutation
|
CLINVAR |
ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells.
|
19005673 |
2009 |
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells.
|
19005673 |
2009 |
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells.
|
19005673 |
2009 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells.
|
19005673 |
2009 |
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the chromatin-associated protein ATRX.
|
18409179 |
2008 |