rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
|
12872250 |
2003 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
|
12966523 |
2003 |
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Prenatal diagnosis in Rett syndrome.
|
12065946 |
2003 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
The authors also report the identification of MeCP2 mutations in two males; a Klinefelter's male with classic RTT (T158M) and a hemizygous male infant with a Xq27-28 inversion and a novel 32 bp frameshift deletion [1154(del32)].
|
11402105 |
2001 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.
|
11738883 |
2001 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
|
11269512 |
2001 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
|
11241840 |
2001 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.
|
11376998 |
2001 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
MECP2 mutations account for most cases of typical forms of Rett syndrome.
|
10814719 |
2000 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
|
10767337 |
2000 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
|
10944854 |
2000 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Functional consequences of Rett syndrome mutations on human MeCP2.
|
11058114 |
2000 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.
|
11055898 |
2000 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutation screening in Rett syndrome patients.
|
10745042 |
2000 |
rs28934906
|
|
A |
0.900 |
GeneticVariation |
CLINVAR |
Chronic osteomyelitis in patients with sickle cell disease.
|
10944834 |
2000 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
|
10991689 |
2000 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.
|
10991688 |
2000 |
rs28934906
|
|
A |
0.900 |
CausalMutation |
CLINVAR |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
|
10508514 |
1999 |
rs28934904
|
|
A |
0.880 |
CausalMutation |
CLINVAR |
From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.
|
27929079 |
2016 |
rs28934904
|
|
A |
0.880 |
CausalMutation |
CLINVAR |
Functional outcomes in Rett syndrome.
|
26175308 |
2016 |
rs28934904
|
|
A |
0.880 |
CausalMutation |
CLINVAR |
Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.
|
21160487 |
2011 |
rs28934904
|
|
A |
0.880 |
CausalMutation |
CLINVAR |
MeCP2 Rett mutations affect large scale chromatin organization.
|
21831886 |
2011 |
rs28934904
|
|
A |
0.880 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in Brazillian Rett syndrome patients.
|
19722030 |
2009 |
rs28934904
|
|
A |
0.880 |
CausalMutation |
CLINVAR |
Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.
|
15173251 |
2004 |
rs28934904
|
|
A |
0.880 |
CausalMutation |
CLINVAR |
Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype.
|
15526954 |
2004 |