rs132630268
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome.
|
12437929 |
2002 |
rs132630268
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.
|
10202051 |
1999 |
rs132630268
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype.
|
14612666 |
2003 |
rs132630268
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.
|
17390083 |
2007 |
rs132630268
|
|
C |
0.710 |
GeneticVariation |
CLINVAR |
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.
|
8682510 |
1996 |
rs132630272
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
X-linked Wiskott-Aldrich syndrome in a girl.
|
9445409 |
1998 |
rs132630272
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
|
8528198 |
1995 |
rs132630272
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
|
10447259 |
1999 |
rs132630272
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients.
|
9126958 |
1997 |
rs132630272
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
|
8528199 |
1995 |
rs132630272
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.
|
9683546 |
1998 |
rs132630272
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome.
|
9713366 |
1998 |
rs132630272
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods.
|
9098856 |
1997 |
rs132630272
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Nuclear role of WASp in the pathogenesis of dysregulated TH1 immunity in human Wiskott-Aldrich syndrome.
|
20574068 |
2010 |
rs132630272
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.
|
8682510 |
1996 |
rs132630272
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
|
11793485 |
2002 |
rs132630272
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.
|
7753869 |
1995 |
rs132630273
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods.
|
9098856 |
1997 |
rs132630273
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
X-linked Wiskott-Aldrich syndrome in a girl.
|
9445409 |
1998 |
rs132630273
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome.
|
9713366 |
1998 |
rs132630273
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
|
8528198 |
1995 |
rs132630273
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
|
11793485 |
2002 |
rs132630273
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
|
10447259 |
1999 |
rs132630273
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
|
8528199 |
1995 |
rs132630273
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.
|
7753869 |
1995 |