Center for Research in Genodermatoses and Epidermolysis Bullosa (University of Buenos Aires)
General information
Center for Research in Genodermatoses and Epidermolysis Bullosa
University of Buenos Aires
Gallo 1330
Buenos Aires
Distrito Federal
Argentina - 1425
https://www.fmed.uba.ar/cedigea/info
Organization ID: 508489
University of Buenos Aires
Gallo 1330
Buenos Aires
Distrito Federal
Argentina - 1425
https://www.fmed.uba.ar/cedigea/info
Organization ID: 508489
Personnel
- Laura Valinotto, Lab Director
Phone: +5491168180266
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 95
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| COL7A1 | 95 | Apr 12, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Generalized dominant dystrophic epidermolysis bullosa | 24 | Apr 12, 2022 |
| Recessive dystrophic epidermolysis bullosa | 71 | Apr 12, 2022 |