rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
|
10775529 |
2000 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
|
10729113 |
2000 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
|
11311042 |
2001 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.
|
12525556 |
2003 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
|
15325563 |
2004 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.
|
17296898 |
2007 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.
|
18665195 |
2009 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
|
20145675 |
2010 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
An update on the genetics of usher syndrome.
|
21234346 |
2011 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Phenotypes in defined genotypes including siblings with Usher syndrome.
|
21174530 |
2011 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
|
22495311 |
2012 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.
|
23352160 |
2013 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Expressivity of hearing loss in cases with Usher syndrome type IIA.
|
24160897 |
2013 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
|
24944099 |
2014 |
rs80338903
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
|
25649381 |
2015 |