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Bi-allelic variants in IPO8 cause a connective tissue disor..:

Ziegler, Alban ; Duclaux-Loras, Remi ; Revenu, Celine...
https://discovery.ucl.ac.uk/id/eprint/10146455/1/Maroofian_Bi-allelic%20variants%20in%20IPO8%20cause%20a%20connective%20tissue%20disorder%20associated%20with%20cardiovascular%20defects,%20skeletal%20abnormalities,%20and%20immune%20dysregulation_VoR.pdf.  , 2021