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
Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants.
Yan D et al.
Molecular Genetics & Genomic Medicine, 2022
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