|
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
rs76157638
|
|
G |
0.830 |
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 |
|
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.
|
25283059 |
2015 |
|
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.
|
24713488 |
2014 |
|
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
|
24154662 |
2014 |
|
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
|
25082885 |
2014 |
|
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Disease variants in genomes of 44 centenarians.
|
25333069 |
2014 |
|
rs76157638
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
|
24444108 |
2014 |
|
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Personalized genomic disease risk of volunteers.
|
24082139 |
2013 |
|
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Stargardt disease: towards developing a model to predict phenotype.
|
23695285 |
2013 |
|
rs76157638
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.
|
24097981 |
2013 |
|
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
|
22264887 |
2012 |
|
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4.
|
23144455 |
2012 |
|
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
A map of human genome variation from population-scale sequencing.
|
20981092 |
2010 |
|
rs76157638
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.
|
18977788 |
2009 |
|
rs76157638
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Two other family members with STGD were compound heterozygous for the 2588G-->C and IVS33+1G-->A mutations.
|
15019334 |
2004 |
|
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.
|
12192456 |
2002 |
|
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration.
|
11919200 |
2002 |
|
rs76157638
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
|
11527935 |
2001 |
|
rs76157638
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
|
11379881 |
2001 |
|
rs76157638
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
An analysis of allelic variation in the ABCA4 gene.
|
11328725 |
2001 |
|
rs76157638
|
|
|
0.830 |
GeneticVariation |
BEFREE |
STGD-affected individual AR682-03 was compound heterozygous for the mutation 2588G-->C and a complex allele, [W1408R; R1640W].
|
11687513 |
2001 |
|
rs76157638
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
|
11385708 |
2001 |
|
rs76157638
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
|
11594993 |
2001 |
|
rs76157638
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
|
10711710 |
2000 |