Associated Papers
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
SpliceVault predicts the precise nature of variant-associated mis-splicing.
Dawes R et al.
Nature Genetics, 2023
36747048 (PubMed )
Supplement: 41588_2022_1293_MOESM16_ESM.xlsx › ES_RNA
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