Neurology Department (Peking University First Hospital)
General information
Personnel
- JUN FU, Contact
Phone: 13126782131
Email: fujunhb@163.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 12
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Charcot-Marie-Tooth disease axonal type 2K | 1 | Oct 27, 2016 |
| Charcot-Marie-Tooth disease type 2E | 1 | Dec 3, 2016 |
| Cobalamin C disease | 7 | Apr 24, 2020 |
| DPM3-congenital disorder of glycosylation | 2 | Nov 5, 2019 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 1 | Apr 24, 2020 |