×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
GeneticVariation
disease
CLINVAR
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
29572252
2018
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
GeneticVariation
disease
CLINVAR
Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.
28440418
2017
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
GeneticVariation
disease
CLINVAR
Ocular findings in a patient with Cockayne syndrome with two mutations in the ERCC6 gene.
27186691
2017
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
GeneticVariation
disease
CLINVAR
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
27356891
2016
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
CausalMutation
disease
CLINVAR
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
27004399
2016
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
Biomarker
disease
GENOMICS_ENGLAND
Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.
26749132
2016
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
GeneticVariation
disease
CLINVAR
The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair.
26620705
2016
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
GeneticVariation
disease
CLINVAR
CSB-PGBD3 Mutations Cause Premature Ovarian Failure.
26218421
2015
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
GeneticVariation
disease
CLINVAR
A new mutation in the CSB gene in a Chinese patient with mild Cockayne syndrome.
25356239
2014
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
CausalMutation
disease
CLINVAR
A possible cranio-oro-facial phenotype in Cockayne syndrome.
23311583
2013
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
CausalMutation
disease
CLINVAR
Mutant Cockayne syndrome group B protein inhibits repair of DNA topoisomerase I-DNA covalent complex.
21143350
2011
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
GeneticVariation
disease
CLINVAR
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
21228398
2011
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
CausalMutation
disease
CLINVAR
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
19894250
2010
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
GeneticVariation
disease
CLINVAR
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
19894250
2010
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
CausalMutation
disease
CLINVAR
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.
18628313
2008
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
CausalMutation
disease
CLINVAR
CSB protein is (a direct target of HIF-1 and) a critical mediator of the hypoxic response.
18784753
2008
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
GeneticVariation
disease
CLINVAR
Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.
11809892
2002
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
Biomarker
disease
CTD_human
Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum.
10767341
2000
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
GeneticVariation
disease
CLINVAR
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
9443879
1998
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
Biomarker
disease
GENOMICS_ENGLAND
Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome.
7063265
1982
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
Biomarker
disease
GENOMICS_ENGLAND
A new human photosensitive subject with a defect in the recovery of DNA synthesis after ultraviolet-light irradiation.
7264357
1981
×
Entrez Id:
2074
Gene Symbol:
ERCC6
ERCC6
0.600
Biomarker
disease
GENOMICS_ENGLAND