Associated Papers
Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.
Padmanarayana M et al.
Biorxiv : the Preprint Server for Biology, 2025
41278994 (PubMed )
Supplement: media-1.xlsx › WNT_DC_ABE_Screen
Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.
Nunes-Xavier CE et al.
Plos Genetics, 2025
Case report: Discovery of novel CTNNB1 mutations and comparison of clinical characteristics in two patients with NEDSDV.
Lee E et al.
Frontiers in Genetics, 2025
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š et al.
International Journal of Molecular Sciences, 2022
CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series.
Ho S et al.
American Journal of Medical Genetics. Part A, 2022
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.
Rossetti LZ et al.
Molecular Genetics & Genomic Medicine, 2021
33350591 (PubMed )
Supplement: MGG3-9-e1542-s002.xlsx › All_Patients_in_Literature
Analysis of targeted somatic mutations in pleomorphic carcinoma of the lung using next-generation sequencing technique.
Manabe S et al.
Thoracic Cancer, 2020
32578376 (PubMed )
Supplement: TCA-11-2262-s003.xlsx › Sheet1
Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.
Sun W et al.
Investigative Ophthalmology & Visual Science, 2019
Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review.
Li N et al.
Medicine, 2017
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Kuechler A et al.
Human Genetics, 2015
Whole Exome Sequencing Identified two Novel Truncation Mutations in the CTNNB1 Gene Associated with Neurodevelopmental Disorder, Language Dysfunction, and Microcephaly in Chinese Children.
Ji Y et al.
Child Neurology Open, 0
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