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Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.

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Title: Genotype-phenotype characterization and functional reconstitution of pathogenic β-catenin variants from CTNNB1 syndrome patients.
Authors: Nunes-Xavier, Caroline E.1,2 (AUTHOR) rpulidomurillo@gmail.com, Pallarès-Sastre, Mercè3 (AUTHOR), Rodríguez-Ramos, Ana1,2 (AUTHOR), Bañuelos, Sonia4,5 (AUTHOR), Cortajarena, Irune4,5 (AUTHOR), Cavaliere, Fabio6,7 (AUTHOR), Ruiz-Espinoza, Cynthia1,8 (AUTHOR), Llano-Rivas, Isabel1,9 (AUTHOR), García, Maitane3 (AUTHOR), Amayra, Imanol3 (AUTHOR), Pulido, Rafael1,2,10 (AUTHOR) rafael.pulidomurillo@bio-bizkaia.eus
Source: PLoS Genetics. 10/13/2025, Vol. 21 Issue 10, p1-19. 19p.
Database: Academic Search Ultimate
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ISSN:15537390
DOI:10.1371/journal.pgen.1011907