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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

Crossref DOI link: https://doi.org/10.1038/s10038-024-01273-2

Published Online: 2024-07-11

Published Print: 2024-11

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Khabou, Boudour

Sahari, Umar Bin Mohamad

ben Issa, Abir

Bouchaala, Wafa

Szenker-Ravi, Emmanuelle

Yu Jin Ng, Alvin

Bonnard, Carine

Mbarek, Hamdi https://orcid.org/0000-0002-1108-0371
Zeyaul, Islam

Fakhfakh, Faiza

Kammoun, Fatma

Reversade, Bruno

Charfi Triki, Chahnez
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Article History

Received: 5 March 2024

Revised: 2 July 2024

Accepted: 3 July 2024

First Online: 11 July 2024

Competing interests

: The authors declare no competing interests.

: The study was conducted according to the guidelines ofthe Declaration of Helsink and approved by the Regional ethics Committee of the Protection of Persons, Sfax, Tunisia (CPP SUD) (number 0193/2019).

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