LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
|
28418496 |
2017 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
|
20079931 |
2010 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Predicting the pathogenicity of RPE65 mutations.
|
19431183 |
2009 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular characterization of Leber congenital amaurosis in Koreans.
|
18682808 |
2008 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.
|
18539930 |
2008 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
|
17724218 |
2007 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Gene symbol: RPE65. Disease: Leber's congenital amaurosis. Accession #Hm0548.
|
17297704 |
2006 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.
|
16150724 |
2005 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Evaluation of genotype-phenotype associations in leber congenital amaurosis.
|
16205573 |
2005 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
|
15024725 |
2004 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
|
15024725 |
2004 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.
|
14962443 |
2004 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of three genes in Leber congenital amaurosis in Indonesian patients.
|
14611946 |
2003 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
|
11462243 |
2001 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
|
11462243 |
2001 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
|
10766140 |
2000 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
|
9801879 |
1999 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
|
10090910 |
1999 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
|
9326941 |
1997 |
LEBER CONGENITAL AMAUROSIS, TYPE II (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in RPE65 cause Leber's congenital amaurosis.
|
9326927 |
1997 |
Retinitis Pigmentosa 20
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
|
20079931 |
2010 |
Retinitis Pigmentosa 20
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Predicting the pathogenicity of RPE65 mutations.
|
19431183 |
2009 |
Retinitis Pigmentosa 20
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.
|
18539930 |
2008 |
Retinitis Pigmentosa 20
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.
|
16150724 |
2005 |
Retinitis Pigmentosa 20
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
|
15024725 |
2004 |