×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
GeneticVariation
disease
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
Biomarker
disease
BEFREE
Participants were 9 patients with CNGB1 -associated RP .
29800053
2018
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
Biomarker
disease
BEFREE
Moreover, the identification of potential biomarkers of outcome measures, availability of relevant animal models, and robust functional rescue from gene augmentation therapy support future work to move CNGB1 -RP therapies toward clinical trials.
29202463
2018
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
GeneticVariation
disease
BEFREE
The c.385delC (p.(L129W fsTer148)) mutation in the CNGB1 gene screened by exome sequencing is probably responsible for the RP phenotype in this family.
30451805
2018
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
Biomarker
disease
BEFREE
Early Microglia Activation Precedes Photoreceptor Degeneration in a Mouse Model of CNGB1 -Linked Retinitis Pigmentosa .
29354133
2017
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
CausalMutation
disease
CLINVAR
Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.
28056120
2017
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
GeneticVariation
disease
BEFREE
To describe the detailed clinical and molecular genetic findings in a series of patients with RP with likely pathogenic variants in CNGB1 .
28056120
2017
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
GeneticVariation
disease
CLINVAR
The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.
25999674
2015
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
GeneticVariation
disease
CLINVAR
Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.
25943428
2015
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
GeneticVariation
disease
BEFREE
The Scottish population examined here had no mutations in the GARP2 exons surveyed that could be associated with RP .
23201897
2013
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
GeneticVariation
disease
BEFREE
CNGB1 mutations are one cause of autosomal recessive RP making the CNGB1 mutant dog a valuable large animal model of the condition.
23977260
2013
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
CausalMutation
disease
CLINVAR
Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
21987686
2011
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
CausalMutation
disease
CLINVAR
Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.
21147909
2011
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
GeneticVariation
disease
CLINVAR
Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa.
21987686
2011
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
GeneticVariation
disease
CLINVAR
Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.
21147909
2011
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
GeneticVariation
disease
BEFREE
Two of the RP associated mutations were found in the CNGB1 gene that encodes the B subunit of the rod cyclic nucleotide-gated channel (CNGB1a).
20126465
2010
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
Biomarker
disease
CTD_human
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa .
11379879
2001
×
Entrez Id:
1258
Gene Symbol:
CNGB1
CNGB1
0.680
Biomarker
disease
GENOMICS_ENGLAND