Associated Papers
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D et al.
Expert Review of Molecular Diagnostics, 2023
Splicing Interruption by Intron Variants in CSNK2B Causes Poirier-Bienvenu Neurodevelopmental Syndrome: A Focus on Genotype-Phenotype Correlations.
Zhang W et al.
Frontiers in Neuroscience, 2022
35774559 (PubMed )
Supplement: Table_1.xlsx › sheet1
Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases.
Unni P et al.
Frontiers in Molecular Biosciences, 2022
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