Associated Papers
Development of a Clinically Applicable High-Resolution Assay for Sperm Mosaicism.
Wei S et al.
The Journal of Molecular Diagnostics : Jmd, 2025
ATP6V0C gene variants were identified in individuals with epilepsy, with or without developmental delay.
Zhao S et al.
Journal of Human Genetics, 2023
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA et al.
Brain : a Journal of Neurology, 2023
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