JKU Lab, Dept of Paediatrics (Johannes Kepler University), JKU
General information
JKU Lab, Dept of Paediatrics, JKU
Johannes Kepler University
Krankenhause strasse 26-30
Linz
Austria - 4020
https://alplmutationdatabase.jku.at/
Organization ID: 508293
Johannes Kepler University
Krankenhause strasse 26-30
Linz
Austria - 4020
https://alplmutationdatabase.jku.at/
Organization ID: 508293
Personnel
- Ahmed El-Gazzar, Lab Director
Phone: 0043 5 7680 84 26820
Email: hppresearch@jku.at - Mariam Farman, Variant scientist/curator
Phone: 0043 5 7680 84 26820
Email: hppresearch@jku.at - Wolfgang Hoegler, Principal Investigator
Phone: 0043 5 7680 84 26820
Email: hppresearch@jku.at
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 90
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hypophosphatasia | 89 | Feb 19, 2024 |
| Spinal muscular atrophy with congenital bone fractures 2 | 1 | Apr 28, 2023 |