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The modeled structure of the SMP domain of PDZD-8 with mutated residues (L98W, I252W) were generated using the Mutagenesis function of the PyMOL
Whole-exome sequencing All exons were sequenced in the proband to identify causal genes
[DOI] [PubMed] [Google Scholar] 20.Abenavoli L, Masarone M, Peta V, Milic N, Kobyliak N, Rouabhia S, et al
