Biochemistry Metabolomics and Proteomics Laboratory (Necker Enfants Malades Hospital)
General information
Biochemistry Metabolomics and Proteomics Laboratory
Necker Enfants Malades Hospital
149 rue de Sevres
Paris
Ile-de-France
France - 75015
http://hopital-necker.aphp.fr/
Organization ID: 507583
Necker Enfants Malades Hospital
149 rue de Sevres
Paris
Ile-de-France
France - 75015
http://hopital-necker.aphp.fr/
Organization ID: 507583
Personnel
- Catherine CAILLAUD, Principal Investigator
Phone: 33-1-71396974
Email: catherine.caillaud@inserm.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| GLA | 1 | Jun 5, 2020 |
| RPL36A-HNRNPH2 | 1 | Jun 5, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Fabry disease | 1 | Jun 5, 2020 |