rs28937873
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
|
25097241 |
2014 |
rs28937873
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.
|
24069298 |
2013 |
rs28937873
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.
|
19898638 |
2009 |
rs28937873
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
|
19006237 |
2009 |
rs28937873
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
|
18294254 |
2008 |
rs28937873
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Our analysis show that two ESCS mutations, missense mutations R385P and M407K, abolished NR2E3 repressive activity in the context of full-length and Gal4 chimeric receptors, while W234S and R311Q mutants retained their repressive activity in both assays.
|
17438525 |
2007 |
rs28937873
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes.
|
15689355 |
2005 |
rs28937873
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
We studied the postmortem retina of an ESCS patient homozygous for NR2E3 R311Q.
|
11773633 |
2002 |
rs28937873
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
|
10655056 |
2000 |
rs28937873
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
|
10655056 |
2000 |
rs28937873
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.
|
11071390 |
2000 |
rs28937873
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
|
|
|
rs104894492
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.
|
24069298 |
2013 |
rs104894492
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
|
19006237 |
2009 |
rs104894492
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
|
18294254 |
2008 |
rs104894492
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
|
16225923 |
2005 |
rs104894492
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
|
15459973 |
2004 |
rs104894492
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.
|
12963616 |
2003 |
rs104894492
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
|
10655056 |
2000 |
rs104894492
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.
|
11071390 |
2000 |
rs104894492
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs146403122
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
The crystal structure of the orphan nuclear receptor NR2E3/PNR ligand binding domain reveals a dimeric auto-repressed conformation.
|
24069298 |
2013 |
rs146403122
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
|
19006237 |
2009 |
rs146403122
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
|
18294254 |
2008 |
rs146403122
|
|
|
0.720 |
GeneticVariation |
UNIPROT |
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
|
16225923 |
2005 |