Accession |
PRJCA004061 |
Title |
Diagnostic Challenges in CMMRD |
Relevance |
Medical |
Data types |
Variation
|
Organisms |
Homo sapiens
|
Description |
a Novel Mutation in the PMS2 Gene in Constitutional mismatch repair deficiency (CMMRD) |
Sample scope |
Multiisolate |
Release date |
2020-12-17 |
Publication |
PubMed ID |
Article title |
Journal name |
DOI |
Year |
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
|
|
Grants |
Agency |
program |
Grant ID |
Grant title |
the Department of Science and Technology of Liaoning Province
|
|
2019-ZD-0913
|
|
|
Submitter |
Li
Ying (yingli0209@163.com)
|
Organization |
The Second Hospital of Dalian Medical University |
Submission date |
2020-12-17 |