Biochemistry and Genetic Laboratory (APHP Bichat Claude Bernard Hospital)
General information
Personnel
- Sandrine Vuillaumier-Barrot, Staff
Phone: 33 1 40256277
Email: sandrine.vuillaumier@aphp.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 5
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| ALG3-congenital disorder of glycosylation | 2 | Jan 29, 2019 |
| MPI-congenital disorder of glycosylation | 1 | Mar 9, 2021 |
| SSR4-congenital disorder of glycosylation | 2 | Nov 23, 2020 |