×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
GeneticVariation
disease
UNIPROT
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes.
28819299
2017
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.
28512305
2017
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
27113771
2016
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
26147992
2015
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.
24512366
2015
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
24715753
2014
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
25133751
2014
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations.
23449718
2013
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
23379534
2013
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
24265693
2013
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
GeneticVariation
disease
CLINVAR
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
23847139
2013
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.
23462753
2013
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
GeneticVariation
disease
UNIPROT
Next-generation genetic testing for retinitis pigmentosa.
22334370
2012
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
GeneticVariation
disease
UNIPROT
CRB1 mutations in inherited retinal dystrophies.
22065545
2012
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
CRB1 mutations in inherited retinal dystrophies.
22065545
2012
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.
22863181
2012
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
GeneticVariation
disease
UNIPROT
Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
21987686
2011
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
GeneticVariation
disease
UNIPROT
Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
22128245
2011
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
GeneticVariation
disease
UNIPROT
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
20956273
2011
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
Biomarker
disease
GENOMICS_ENGLAND
Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.
21484995
2011
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.
20956273
2011
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
20079931
2010
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
GeneticVariation
disease
UNIPROT
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
20591486
2010
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
20591486
2010
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.930
CausalMutation
disease
CLINVAR
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
19140180
2009