rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
|
27460420 |
2016 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.
|
26310143 |
2015 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
C |
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 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
|
24938718 |
2014 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
|
25324289 |
2014 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
|
24227914 |
2013 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
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 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
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 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.
|
17296898 |
2007 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.
|
16098008 |
2005 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
|
15325563 |
2004 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
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 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.
|
12427073 |
2002 |
rs201527662
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.
|
10775529 |
2000 |