rs1554139723
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.
|
27255693 |
2016 |
rs1554139870
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.
|
27255693 |
2016 |
rs1554139723
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
|
23389741 |
2013 |
rs1554139870
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
|
23389741 |
2013 |
rs1554139723
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
|
22495311 |
2012 |
rs1554139723
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.
|
22498567 |
2012 |
rs1554139723
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.
|
22670137 |
2012 |
rs1554139870
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
|
22495311 |
2012 |
rs1554139870
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.
|
22670137 |
2012 |
rs1554139870
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.
|
22498567 |
2012 |
rs1554139723
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
|
20513142 |
2010 |
rs1554139723
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
|
19592390 |
2010 |
rs1554139870
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
|
20513142 |
2010 |
rs1554139870
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.
|
19592390 |
2010 |
rs1554139723
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
|
19471318 |
2009 |
rs1554139870
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
|
19471318 |
2009 |
rs1554139723
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells.
|
18579729 |
2008 |
rs1554139870
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells.
|
18579729 |
2008 |
rs1554139723
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
MEF2: a central regulator of diverse developmental programs.
|
17959722 |
2007 |
rs1554139870
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
MEF2: a central regulator of diverse developmental programs.
|
17959722 |
2007 |