Biologia e Medicina Molecolare (Sapienza University of Rome), BeMM
General information
Biologia e Medicina Molecolare, BeMM
Sapienza University of Rome
Piazzale Aldo Moro 5, 00185 Roma
Rome
Lazio
Italy - 00185
https://phd.uniroma1.it/web/-HUMAN-BIOLOGY-AND-MEDICALGENETICS_nD3490_EN.aspx
Organization ID: 506252
Sapienza University of Rome
Piazzale Aldo Moro 5, 00185 Roma
Rome
Lazio
Italy - 00185
https://phd.uniroma1.it/web/-HUMAN-BIOLOGY-AND-MEDICALGENETICS_nD3490_EN.aspx
Organization ID: 506252
Personnel
- Omid Daneshjoo, Staff
Phone: +393206756399
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 5
Gene
Condition
Name | Submissions | Last Updated |
---|---|---|
Cleidocranial dysostosis | 1 | Sep 7, 2017 |
Junctional epidermolysis bullosa, non-Herlitz type | 1 | Feb 7, 2018 |
Marfan syndrome | 1 | Feb 7, 2020 |
Megaconial type congenital muscular dystrophy | 1 | Jan 19, 2023 |
Wilson disease | 1 | Aug 31, 2017 |