Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.W383*
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CTNNB1

NM_001904.4:p.W383*

Associated Papers

Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.

Lee S et al.

Npj Genomic Medicine, 2025

41354729 (PubMed )
Supplement: 41525_2025_538_MOESM1_ESM.pdf

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

The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder.

Lee S et al.

Frontiers in Pediatrics, 2022

Oncogenic Serine 45-Deleted β-Catenin Remains Susceptible to Wnt Stimulation and APC Regulation in Human Colonocytes.

Parker TW et al.

Cancers, 2020

32751567 (PubMed )
Supplement: cancers-12-02114-s001.zip › cancers-848197_Supplementary_Data_Files_Parker_Rudeen_Neufeld_11july20.xlsx › Ctnnb1_Mutations
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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."