Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.G227insFs
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CTNNB1

NM_001904.4:p.G227insFs

Associated Papers

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

Žakelj N et al.

Hgg Advances, 2025

40684264 (PubMed )
Supplement: mmc3.xlsx › Case_Variants

An evolutionarily conserved role for CTNNB1/β-CATENIN in regulating the development of the corpus callosum.

Parichha A et al.

Iscience, 2025

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.

Sinibaldi L et al.

Clinical Genetics, 2023

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

Onesimo R et al.

Genes, 2023

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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."