Dr Sami Ulus Medical Genetics Department (Dr Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases)
General information
Dr Sami Ulus Medical Genetics Department
Dr Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases
Babür caddesi
Ankara
Ankara
Turkey - 06080
https://samiuluskdch.saglik.gov.tr/
Organization ID: 507416
Dr Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases
Babür caddesi
Ankara
Ankara
Turkey - 06080
https://samiuluskdch.saglik.gov.tr/
Organization ID: 507416
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 3
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BRAT1 | 1 | May 13, 2020 |
| ENTPD1 | 1 | Jun 4, 2024 |
| ENTPD1-AS1 | 1 | Jun 4, 2024 |
| TALDO1 | 1 | Feb 3, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Deficiency of transaldolase | 1 | Feb 3, 2020 |
| Hereditary spastic paraplegia 64 | 1 | Jun 4, 2024 |
| Neonatal-onset encephalopathy with rigidity and seizures | 1 | May 13, 2020 |