rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
|
10508514 |
1999 |
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
|
10508514 |
1999 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Mutation screening in Rett syndrome patients.
|
10745042 |
2000 |
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation screening in Rett syndrome patients.
|
10745042 |
2000 |
rs28934906
|
|
Rett Syndrome
|
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
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
|
10767337 |
2000 |
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
MECP2 mutations account for most cases of typical forms of Rett syndrome.
|
10814719 |
2000 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
MECP2 mutations account for most cases of typical forms of Rett syndrome.
|
10814719 |
2000 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
GeneticVariation
|
CLINVAR |
Chronic osteomyelitis in patients with sickle cell disease.
|
10944834 |
2000 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
|
10944854 |
2000 |
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
|
10944854 |
2000 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.
|
10991688 |
2000 |
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.
|
10991688 |
2000 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
|
10991689 |
2000 |
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
|
10991689 |
2000 |
rs28934906
|
|
Rett Syndrome
|
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
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
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
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Functional consequences of Rett syndrome mutations on human MeCP2.
|
11058114 |
2000 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
|
11241840 |
2001 |
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
|
11269512 |
2001 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
|
11269512 |
2001 |
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.
|
11283202 |
2001 |
rs28934906
|
|
Rett Syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.
|
11376998 |
2001 |
rs28934906
|
|
Rett Syndrome
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.
|
11376998 |
2001 |
rs28934906
|
|
Rett Syndrome
|
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 |