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Petra J G Zwijnenburg

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Open access Jun 2026

Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder

Overall, EIF1AX is a novel gene for which loss-of-function variants appear to produce syndromic neurodevelopmental disorders in males, and its pathogenicity was evaluated using a molecular dynamic simulation and transgenic Drosophila models.

Kazuyuki Komatsu, Atsushi Sugie, Yohei Nitta et al. · 1 citation