Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.R90*
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CTNNB1

NM_001904.4:p.R90*

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_CBE_Screen

Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome.

Žakelj N et al.

Hgg Advances, 2025

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

Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.

Sinibaldi L et al.

Clinical Genetics, 2023

Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants.

Yan D et al.

Molecular Genetics & Genomic Medicine, 2022

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."