Institute of Pediatric Research, Children's Hospital of Soochow University (Soochow University)
General information
Personnel
- Ying Liu, Staff
Phone: 0086-13814828936
Email: 54865578@qq.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 6
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Combined oxidative phosphorylation defect type 26 | 3 | Aug 12, 2020 |
Non-ketotic hyperglycinemia | 1 | Mar 15, 2021 |
Pontocerebellar hypoplasia type 1A | 1 | Mar 16, 2021 |
Pulmonary hypertension, primary, 4 | 1 | Mar 25, 2023 |