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Open Access DOI:10.23937/2643-4571/1710063
David H. Lee
Article Type: Research Article | Indexed Archive: Volume 8
HNRNPH2-Related Neurodevelopmental Disorder (HNRNPH2-RNDD) is an ultra-rare, X-linked condition characterized by motor impairments, intellectual disability, and global developmental delay. HNRNPH2 is a ubiquitously expressed protein, and the mechanism by which its mutations cause profound neurodevelopmental and motor dysfunction remains unclear....
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