| 项目编号 |
PRJCA004061 |
| 项目标题 |
Diagnostic Challenges in CMMRD |
| 涉及领域 |
Medical |
| 数据类型 |
Variation
|
| 物种名称 |
Homo sapiens
|
| 描述信息 |
a Novel Mutation in the PMS2 Gene in Constitutional mismatch repair deficiency (CMMRD) |
| 样品范围 |
Multiisolate |
| 发布日期 |
2020-12-17 |
| 出版信息 |
| PubMed ID |
文章标题 |
杂志名称 |
Doi |
发表年份 |
| 34247610
|
Diagnostic challenges in a CMMRD patient with a novel mutation in the PMS2 gene: a case report
|
BMC Medical Genomics
|
10.1186/s12920-021-01031-9
|
2021
|
|
|
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| the Department of Science and Technology of Liaoning Province
|
|
2019-ZD-0913
|
|
|
|
| 提交者 |
Li
Ying (yingli0209@163.com)
|
| 提交单位 |
The Second Hospital of Dalian Medical University |
| 提交日期 |
2020-12-17 |
