Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.G235insFs
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CTNNB1

NM_001904.4:p.G235insFs

Associated Papers

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

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

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

Tucci V et al.

The Journal of Clinical Investigation, 2014

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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."