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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

JOURNAL OF HUMAN GENETICS（2024）

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