rs61752871
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis.
|
25752820 |
2015 |
rs61752871
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.
|
23878505 |
2013 |
rs61752871
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Next-generation genetic testing for retinitis pigmentosa.
|
22334370 |
2012 |
rs61752871
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
|
21153841 |
2011 |
rs61752871
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Predicting the pathogenicity of RPE65 mutations.
|
19431183 |
2009 |
rs61752871
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
|
19117922 |
2009 |
rs61752871
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Molecular characterization of Leber congenital amaurosis in Koreans.
|
18682808 |
2008 |
rs61752871
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity.
|
16754667 |
2006 |
rs61752871
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
|
15557452 |
2004 |
rs61752871
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
|
12960219 |
2003 |
rs61752871
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
|
11095629 |
2000 |
rs61752871
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
|
11095629 |
2000 |
rs61752871
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.
|
9501220 |
1998 |