|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
|
29925512 |
2019 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
ATP-binding cassette subfamily A, member 4 intronic variants c.4773+3A>G and c.5461-10T>C cause Stargardt disease due to defective splicing.
|
29461686 |
2018 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
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)
|
|
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Reduced macular function in ABCA4 carriers.
|
26261413 |
2015 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.
|
24713488 |
2014 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
|
25097241 |
2014 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
|
25082885 |
2014 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
|
23591405 |
2014 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Stargardt disease: towards developing a model to predict phenotype.
|
23695285 |
2013 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
|
22264887 |
2012 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.
|
22328824 |
2012 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Loss of peripapillary sparing in non-group I Stargardt disease.
|
20696155 |
2010 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
ABCA4 disease progression and a proposed strategy for gene therapy.
|
19074458 |
2009 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
|
15614537 |
2005 |
|
STARGARDT DISEASE 1 (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |