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Author

Chao Geng

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Case report Oct 2026

[Genetic and phenotypic analysis of three children with Neurodevelopmental disorders due to variants of DEAF1 gene].

In vitro functional assay combined with the clinical manifestations of the patients confirmed the pathogenicity of the non-canonical splice site variant in the intronic region, and enriched the mutational spectrum of the DEAF1 gene.

Chao Geng, S. Shangguan, Xiao-Li Chen et al. · 0 citations

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