Translational Omics Lab at Great Ormond Street Institute of Child Health (University College London)
General information
Translational Omics Lab at Great Ormond Street Institute of Child Health
University College London
30 Guilford Street, UCL Great Ormond Street Institute of Child Health
London
United Kingdom - WC1N 1EH
https://www.ucl.ac.uk/child-health/
Organization ID: 507387
University College London
30 Guilford Street, UCL Great Ormond Street Institute of Child Health
London
United Kingdom - WC1N 1EH
https://www.ucl.ac.uk/child-health/
Organization ID: 507387
Personnel
- Lamia Boukhibar, Staff
Phone: 07455337867
Email: l.mestek@ucl.ac.uk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 2
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| TKFC | 2 | Mar 30, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Inborn errors of metabolism | 2 | Mar 30, 2020 |
| TKFC deficiency | 2 | Mar 30, 2020 |