Unidade de Bioquimica Genetica (Centro Hospitalar do Porto), UBG
General information
Unidade de Bioquimica Genetica, UBG
Centro Hospitalar do Porto
Praca de Pedro Nunes 88
Porto
Porto
Portugal - 4050-466
http://www.chporto.pt/cgmjm
Organization ID: 506378
Centro Hospitalar do Porto
Praca de Pedro Nunes 88
Porto
Porto
Portugal - 4050-466
http://www.chporto.pt/cgmjm
Organization ID: 506378
Personnel
- Maria Quelhas, Principal Investigator
Phone: 351226070319
Email: mdquelhas@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 3
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Phenylketonuria | 2 | Dec 21, 2017 |
| SLC35A2-congenital disorder of glycosylation | 1 | Oct 9, 2018 |