rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2.
|
8177735 |
1993 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
|
10508514 |
1999 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Functional consequences of Rett syndrome mutations on human MeCP2.
|
11058114 |
2000 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
DNA recognition by the methyl-CpG binding domain of MeCP2.
|
11035019 |
2001 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Epilepsy in a representative series of Rett syndrome.
|
11227330 |
2001 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).
|
12615169 |
2003 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.
|
15057977 |
2004 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Macrocephalic mental retardation associated with a novel C-terminal MECP2 frameshift deletion.
|
15558314 |
2005 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Male Rett phenotypes in T158M and R294X MeCP2-mutations.
|
17236109 |
2006 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Early progressive encephalopathy in boys and MECP2 mutations.
|
16832102 |
2006 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
|
16169931 |
2006 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
MECP2 mutations in males.
|
17351020 |
2007 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.
|
17267601 |
2007 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.
|
18337588 |
2008 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Rett syndrome: revised diagnostic criteria and nomenclature.
|
21154482 |
2010 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Using a large international sample to investigate epilepsy in Rett syndrome.
|
23421866 |
2013 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
MECP2 duplication: possible cause of severe phenotype in females.
|
24458799 |
2014 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.
|
24399845 |
2014 |
rs61752992
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.
|
27354166 |
2016 |