Details
| Name | ERCC |
| Type | TF |
| Species | Homo sapiens |
| Tissue | NA |
| Experiment Method | WES ,Sanger sequencing |
| Up/Down | Up |
| Pro/Anti | Pro |
| Funtion Description | Two compound, heterozygous ERCC excision repair 6, chromatin remodelling factor (ERCC6) gene mutations were detected in the proband by WES and confirmed by Sanger sequencing, comprising a known paternal nonsense mutation |
| Regulation Gene | ERCC |
| Year | 2020 |
| Pubmed ID | 31558084 |
| Title | Two heterozygous mutations in the ERCC6 gene associated with Cockayne syndrome in a Chinese patient. |
| Drug | NA |
| Disease | CS |
| Environment Factors | NA |
| Circulating | NA |
| Variant | NA |
| High-throughput | null |