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Carlos A. Gadia

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Open access Sep 2026

Expanding clinical and variant spectrum of CBX1 -related syndrome: Report of three novel cases

In vitro cellular assays revealed that CBX1 p.(Cys60Gly) variant showed an intermediate cellular phenotype between the wild type and the CBX1 p.(Leu40Pro) and p.(Cys60Arg) variants, suggesting a possible genotype-phenotype correlation.

Graciela Carrillo, Shuhei Fujino, Harrison Higgs et al. · 0 citations

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