Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.W338*
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CTNNB1

NM_001904.4:p.W338*

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

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

An evolutionarily conserved role for CTNNB1/β-CATENIN in regulating the development of the corpus callosum.

Parichha A et al.

Iscience, 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

Alopecia areata-like pattern of baldness: the most recent update and the expansion of novel phenotype and genotype in the CTNNB1 gene.

Moeinafshar A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.

Liu ZX et al.

Jama Network Open, 2022

36484990 (PubMed )
Supplement: jamanetwopen-e2245836-s002.xlsx › Table_S5

Potential Targeted Therapies in Ovarian Cancer.

Sisman Y et al.

Pharmaceuticals (basel, Switzerland), 2022

36355495 (PubMed )
Supplement: pharmaceuticals-15-01324-s001.zip › Supplementary_material_Table_S3_.pdf

Identification of a novel de novo mutation in the CTNNB1 gene in an Iranian patient with intellectual disability.

Dashti S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

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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."