Faculty of Engineering and Natural Sciences (Biruni University)
General information
Faculty of Engineering and Natural Sciences
Biruni University
Merkezefendi Mahallesi G/75 Sk. No: 1-13
Istanbul
Istanbul
Turkey - 34015
https://www.biruni.edu.tr/
Organization ID: 509708
Biruni University
Merkezefendi Mahallesi G/75 Sk. No: 1-13
Istanbul
Istanbul
Turkey - 34015
https://www.biruni.edu.tr/
Organization ID: 509708
Personnel
- ELİF SİBEL ASLAN, Lab Director
Phone: 05305695003
Email: [email protected] - MERAL GAVAZ, Variant scientist/curator
Phone: 05534643417
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 8
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Developmental and epileptic encephalopathy, 18 | 2 | Sep 10, 2024 |
Dimethylglycine dehydrogenase deficiency | 2 | Sep 10, 2024 |
Febrile seizures, familial, 4 | 1 | Sep 10, 2024 |
Fowler syndrome | 2 | Sep 10, 2024 |
Sotos syndrome | 1 | Sep 10, 2024 |