Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.Q123*
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CTNNB1

NM_001904.4:p.Q123*

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

36293418 (PubMed )
Supplement: ijms-23-12564-s001.zip › ijms-1954579-supplementary.pdf

CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series.

Ho S et al.

American Journal of Medical Genetics. Part A, 2022

Novel Mutations Detection with Next-Generation Sequencing and Its Association with Clinical Outcome in Unilateral Primary Aldosteronism.

Wu CH et al.

Biomedicines, 2021

Exome sequencing in paediatric patients with movement disorders.

Kwong AK et al.

Orphanet Journal of Rare Diseases, 2021

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

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.

Schumacher V et al.

Journal of Medical Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Schumacher V et al.

Human Genetics, 2005

Genetic screening for hereditary diffuse gastric cancer.

Oliveira C et al.

Expert Review of Molecular Diagnostics, 2003

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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."