Translational Research Program on Neuronal Ceroid Lipofuscinosis (Center for the Study of Inborn Errors of Metabolism)
General information
Personnel
- Ines Noher de Halac, Principal Investigator
Phone: +5403514575974
Email: nclcemeco1789@gmail.com - Favio Pesaola, Lab Associate Director
Phone: +5403514575974
Email: favio.pesaola@gmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 10
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Ceroid lipofuscinosis, neuronal, 6A | 8 | Jul 1, 2018 |
| Neuronal ceroid lipofuscinosis 8 | 2 | Jan 29, 2018 |