Associated Papers
De novo variants in ATP2B1 lead to neurodevelopmental delay.
Rahimi MJ et al.
American Journal of Human Genetics, 2025
ATP2B1 variants associated with generalized epilepsy without neurodevelopmental disorders and the underlying mechanism.
Zhu JH et al.
Seizure, 2025
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.
Yap P et al.
European Journal of Human Genetics : Ejhg, 2024
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