|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.
|
23737954 |
2013 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
|
21686329 |
2011 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
|
22004887 |
2011 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations.
|
21593743 |
2011 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.
|
20309401 |
2010 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
|
20507924 |
2010 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
|
19683999 |
2010 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
|
20440071 |
2010 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.
|
18452394 |
2008 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
|
17085681 |
2006 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutational spectrum in Usher syndrome type II.
|
15025721 |
2004 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
|
14970843 |
2004 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
|
15325563 |
2004 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
|
15241801 |
2004 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
|
12525556 |
2003 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
|
12112664 |
2002 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
|
11311042 |
2001 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.
|
10738000 |
2000 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
|
10729113 |
2000 |
|
USHER SYNDROME, TYPE IIA
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
|
9624053 |
1998 |
|
Retinitis Pigmentosa
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|