Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.V564fs
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CTNNB1

NM_001904.4:p.V564fs

Associated Papers

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

Žakelj N et al.

Hgg Advances, 2025

Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.

Sinibaldi L et al.

Clinical Genetics, 2023

Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Gan M et al.

Cancer Medicine, 2022

35586877 (PubMed )
Supplement: CAM4-11-4070-s004.xlsx › Table_S1

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

Yan D et al.

Molecular Genetics & Genomic Medicine, 2022

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
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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."