Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.G245Splc
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CTNNB1

NM_001904.4:p.G245Splc

Associated Papers

From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.

Onesimo R et al.

Genes, 2023

Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.

Miroševič Š et al.

International Journal of Molecular Sciences, 2022

A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability.

Verhoeven WMA et al.

International Medical Case Reports Journal, 2020

Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage.

Jeannot E et al.

Diabetes, 2010

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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."