|
rs148660051
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
|
25472526 |
2015 |
|
rs148660051
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
|
25097241 |
2014 |
|
rs148660051
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
|
rs148660051
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
|
22004887 |
2011 |
|
rs148660051
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
|
20507924 |
2010 |
|
rs1553261372
|
|
USHER SYNDROME, TYPE IIA
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
|
24944099 |
2014 |
|
rs1553261372
|
|
USHER SYNDROME, TYPE IIA
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.
|
24516651 |
2014 |
|
rs1553261372
|
|
USHER SYNDROME, TYPE IIA
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.
|
22004887 |
2011 |
|
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 |
|
rs202175091
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
CausalMutation
|
CLINVAR |
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
|
27460420 |
2016 |
|
rs202175091
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.
|
25252889 |
2015 |
|
rs202175091
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.
|
25575603 |
2015 |
|
rs202175091
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
|
19683999 |
2010 |
|
rs202175091
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
|
19737284 |
2009 |
|
rs202175091
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2.
|
19737284 |
2009 |
|
rs202175091
|
|
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 |
|
rs202175091
|
|
USHER SYNDROME, TYPE IIA
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II.
|
17085681 |
2006 |
|
rs368049814
|
|
USHER SYNDROME, TYPE IIA
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
|
28981474 |
2017 |
|
rs368049814
|
|
USHER SYNDROME, TYPE IIA
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
|
28761320 |
2017 |
|
rs368049814
|
|
USHER SYNDROME, TYPE IIA
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
|
26667666 |
2015 |
|
rs368049814
|
|
USHER SYNDROME, TYPE IIA
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
|
25412400 |
2015 |