Department of Human Genetics (Nagasaki University)
General information
Department of Human Genetics
Nagasaki University
1-12-4 Sakamoto
Nagasaki
Nagasaki
Japan - 8528523
https://www.genken.nagasaki-u.ac.jp/dhge/index_e.html
Organization ID: 508279
Nagasaki University
1-12-4 Sakamoto
Nagasaki
Nagasaki
Japan - 8528523
https://www.genken.nagasaki-u.ac.jp/dhge/index_e.html
Organization ID: 508279
Personnel
- Hiroyuki Mishima, Informatics staff
Phone: 81-95-719-7120
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 9
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cholesteatoma of middle ear | 8 | Jan 20, 2023 |
| proteasome-associated autoinflammatory syndrome with immunodeficiency (PRAAS-ID) | 1 | Dec 6, 2021 |