Associated Papers
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S2.xlsx › table_S2
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
Platzer K et al.
Annals of Neurology, 2022
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