|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
|
27032803 |
2016 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
|
26338283 |
2015 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.
|
25333064 |
2014 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.
|
23737954 |
2013 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
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 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
|
22004887 |
2011 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Usher syndrome.
|
21697857 |
2011 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
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 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
|
19683999 |
2010 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family.
|
20309401 |
2010 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
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 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
|
19683999 |
2010 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
|
20440071 |
2010 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.
|
18452394 |
2008 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.
|
18452394 |
2008 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
|
18273898 |
2008 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.
|
17405132 |
2007 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
|
17085681 |
2006 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
|
15241801 |
2004 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational spectrum in Usher syndrome type II.
|
15025721 |
2004 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments.
|
14970843 |
2004 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
|
15325563 |
2004 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Mutational spectrum in Usher syndrome type II.
|
15025721 |
2004 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
|
12525556 |
2003 |
|
rs397517963
|
|
USHER SYNDROME, TYPE IIA
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
|
12112664 |
2002 |