| 项目编号 |
PRJCA006158 |
| 项目标题 |
Whole-exome sequencing data of Chinese children affected by Lowe syndrome |
| 涉及领域 |
Medical |
| 数据类型 |
Exome
Phenotype or Genotype
Variation
Raw sequence reads
|
| 物种名称 |
Homo sapiens
|
| 描述信息 |
Whole-exome sequencing data of Chinese children, with a severe phenotype of Lowe syndrome, revealed novel mutations in the OCRL gene. |
| 样品范围 |
Homo sapiens |
| 发布日期 |
2021-08-13 |
| 出版信息 |
| PubMed ID |
文章标题 |
杂志名称 |
Doi |
发表年份 |
| 34488756
|
Novel pathogenic OCRL mutations and genotype–phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review
|
BMC Medical Genomics
|
10.1186/s12920-021-01069-9
|
2021
|
|
|
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| No funding support
|
|
|
|
|
|
| 提交者 |
Yu
Zhang (yuzhang497@163.com)
|
| 提交单位 |
Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology |
| 提交日期 |
2021-08-13 |
