rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs61751374
|
|
A |
0.820 |
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 |
rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations.
|
25712131 |
2015 |
rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
|
25087612 |
2014 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
|
24444108 |
2014 |
rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Stargardt disease caused by a rare combination of double homozygous mutations.
|
24509150 |
2013 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
|
24097981 |
2013 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
BEFREE |
To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.
|
22312191 |
2012 |
rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene.
|
22312191 |
2012 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
|
18977788 |
2009 |
rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
|
19217903 |
2009 |
rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
ABCA4 disease progression and a proposed strategy for gene therapy.
|
19074458 |
2009 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
BEFREE |
In order to further understand the contribution of this gene to the susceptibility to STGD and RP, we analyzed three unrelated STGD families and one autosomal recessive RP family specifically for the more common variants (A1038V, G1961E, 2588G-->C, R943Q or 2828G-->A) in the ABCA4 gene.
|
18506364 |
2008 |
rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
rs61751374
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.
|
15579991 |
2004 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
|
11379881 |
2001 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
|
11594993 |
2001 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
|
11385708 |
2001 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
|
11527935 |
2001 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
An analysis of allelic variation in the ABCA4 gene.
|
11328725 |
2001 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
|
10711710 |
2000 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
|
10746567 |
2000 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
An analysis of ABCR mutations in British patients with recessive retinal dystrophies.
|
10634594 |
2000 |
rs61751374
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |