Varaico: Literature-Extracted Genetic Variants

Gene:CTNNB1
Variant:p.L577R
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CTNNB1

NM_001904.4:p.L577R

Associated Papers

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

Žakelj N et al.

Hgg Advances, 2025

Rare variants modulating phenotype in NF1 carriers.

Pasquinelli E et al.

Scientific Reports, 2025

Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.

Sudnawa KK et al.

Clinical Genetics, 2024

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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."