Article
aiHumanoid Simulations Uncover Dominant-Negative Effects in HNRNPH2-Related Neurodevelopmental Disorders
2024-08-21
Abstract excerpt
HNRNPH2-related neurodevelopmental disorders (NDDs) encompass a spectrum of cognitive, motor, and systemic impairments driven by mutations in the HNRNPH2 gene. While these disorders have been linked to both gain-of-function (GOF) and loss-of-function (LOF) mutations, the precise mechanisms underlying their varied phenotypic features remain unclear. In this study, we employed advanced aiHumanoid simulations to cond...
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Identifiers and source
- Literature Corpus work
- 5490a3db-3c67-5876-88ec-1ec14e2bd141
- DOI
- 10.1101/2024.08.21.24312358
