rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
MECP2 mutations account for most cases of typical forms of Rett syndrome.
|
10814719 |
2000 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutation screening in Rett syndrome patients.
|
10745042 |
2000 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome.
|
15875198 |
2006 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
|
10508514 |
1999 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome.
|
10944854 |
2000 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.
|
11269512 |
2001 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.
|
12966523 |
2003 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.
|
11376998 |
2001 |
rs61748383
|
|
|
0.710 |
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 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.
|
12966522 |
2003 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.
|
11283202 |
2001 |
rs61748383
|
|
|
0.710 |
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 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.
|
11738883 |
2001 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation.
|
11706982 |
2001 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome.
|
10991688 |
2000 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
|
17296936 |
2007 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutations in the MECP2 gene in a cohort of girls with Rett syndrome.
|
10991689 |
2000 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Structure of the MeCP2-TBLR1 complex reveals a molecular basis for Rett syndrome and related disorders.
|
28348241 |
2017 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutation analysis of the MECP2 gene in patients with Rett syndrome.
|
12567420 |
2003 |
rs61748383
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
MeCP2 mutations in children with and without the phenotype of Rett syndrome.
|
11402105 |
2001 |