CONE-ROD DYSTROPHY 3 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
|
28181551 |
2017 |
RETINITIS PIGMENTOSA 19
|
|
0.700 |
CausalMutation
|
CLINVAR |
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
|
28181551 |
2017 |
RETINITIS PIGMENTOSA 19
|
|
0.700 |
CausalMutation
|
CLINVAR |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
|
24444108 |
2014 |
CONE-ROD DYSTROPHY 3 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
|
24444108 |
2014 |
CONE-ROD DYSTROPHY 3 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Stargardt disease: towards developing a model to predict phenotype.
|
23695285 |
2013 |
RETINITIS PIGMENTOSA 19
|
|
0.700 |
CausalMutation
|
CLINVAR |
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
|
23755871 |
2013 |
RETINITIS PIGMENTOSA 19
|
|
0.700 |
CausalMutation
|
CLINVAR |
Stargardt disease: towards developing a model to predict phenotype.
|
23695285 |
2013 |
CONE-ROD DYSTROPHY 3 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
|
23755871 |
2013 |
CONE-ROD DYSTROPHY 3 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
RETINITIS PIGMENTOSA 19
|
|
0.700 |
CausalMutation
|
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
CONE-ROD DYSTROPHY 3 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
RETINITIS PIGMENTOSA 19
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
Retinal Dystrophies
|
|
0.710 |
GeneticVariation
|
BEFREE |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
|
24444108 |
2014 |
Retinal Dystrophies
|
|
0.710 |
GeneticVariation
|
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.
|
28181551 |
2017 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
|
28118664 |
2017 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
|
24444108 |
2014 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
|
24444108 |
2014 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
|
24097981 |
2013 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.
|
23755871 |
2013 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Stargardt disease: towards developing a model to predict phenotype.
|
23695285 |
2013 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
|
18977788 |
2009 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
BEFREE |
There seems to be at least two different origins for the common C1490Y mutation, as well as two for the R602W mutation, thereby suggesting several founder effects for STGD in SA.
|
15161829 |
2004 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
An analysis of allelic variation in the ABCA4 gene.
|
11328725 |
2001 |