STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
|
11385708 |
2001 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
|
9781034 |
1998 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
CausalMutation
|
CLINVAR |
Stargardt disease: towards developing a model to predict phenotype.
|
23695285 |
2013 |
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 |
Stargardt disease: towards developing a model to predict phenotype.
|
23695285 |
2013 |
STARGARDT DISEASE 1 (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
|
10090887 |
1999 |
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 |
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
|
10206579 |
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 |
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 |
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 |
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 |
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 |