Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
- Boudour Khabou
- , Umar Bin Mohamad Sahari
- , Abir Ben Issa
- , Wafa Bouchaala
- , Emmanuelle Szenker-Ravi
- , Alvin Yu Jin Ng
- , Carine Bonnard
- , Hamdi Mbarek
- , Islam Zeyaul
- , Faiza Fakhfakh
- , Fatma Kammoun
- , Bruno Reversade
- , Chahnez Charfi Triki
- University of Sfax
- Genome Institute of Singapore
- King Abdullah University of Science and Technology (KAUST)
- MGI Tech
- A*STAR Skin Research Labs (ASRL)
- Qatar Genome Program
Research output: Contribution to journal › Article › peer-review