rs368049814
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
|
28981474 |
2017 |
rs368049814
|
|
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 |
rs397517990
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
|
28894305 |
2017 |
rs111033264
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
|
27318125 |
2016 |
rs111033264
|
|
G |
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 |
rs111033273
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
|
26927203 |
2016 |
rs202175091
|
|
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 |
rs397517963
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
|
27032803 |
2016 |
rs397517990
|
|
T |
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 |
rs753330544
|
|
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 |
rs753330544
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
|
26927203 |
2016 |
rs111033280
|
|
T |
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 |
rs202175091
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.
|
25252889 |
2015 |
rs202175091
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.
|
25575603 |
2015 |
rs368049814
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
|
26667666 |
2015 |
rs368049814
|
|
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 |
rs375668376
|
|
T |
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 |
rs375668376
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.
|
26310143 |
2015 |
rs375668376
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
|
25356976 |
2015 |
rs397517963
|
|
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 |
rs397517990
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
|
25649381 |
2015 |
rs111033263
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
|
25404053 |
2014 |
rs111033263
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.
|
24516651 |
2014 |
rs111033280
|
|
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
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
|
24944099 |
2014 |