Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.E54*
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CTNNB1

NM_001904.4:p.E54*

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

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC et al.

Nature Genetics, 2020

Insights From Genetic Studies of Cerebral Palsy.

Lewis SA et al.

Frontiers in Neurology, 2020

33551980 (PubMed )
Supplement: Table_1.XLSX › variants

Search for new genetic biomarkers in poorly differentiated and anaplastic thyroid carcinomas using next generation sequencing.

Sykorova V et al.

Anticancer Research, 2015

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