rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
|
28418496 |
2017 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
|
25820994 |
2015 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
|
24603341 |
2014 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
|
22736946 |
2012 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Macular dystrophy in a Japanese family with fundus albipunctatus.
|
12788147 |
2003 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.
|
12967826 |
2003 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.
|
11675386 |
2001 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.
|
11470705 |
2001 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.
|
11078852 |
2000 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus.
|
11053296 |
2000 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
|
11053295 |
2000 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
|
10369264 |
1999 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
|
10617778 |
1999 |
rs111033593
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|