Associated Papers
Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome.
Žakelj N et al.
Hgg Advances, 2025
40684264 (PubMed )
Supplement: mmc3.xlsx › Case_Variants
Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.
Nunes-Xavier CE et al.
Plos Genetics, 2025
Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations.
Pallarès-Sastre M et al.
Journal of Autism and Developmental Disorders, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
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