Associated Papers
Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.
Bonardi CM et al.
Nature Communications, 2026
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG et al.
Molecular Genetics & Genomic Medicine, 2016
27652284 (PubMed )
Supplement: MGG3-4-568-s002.xlsx › variant_overview
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