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Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
Centeno-Pla, Mónica, Alcaide-Consuegra, Estefanía, Gibson, Sophie, Prat-Planas, Aina, Gutiérrez-Ávila, Juan Diego, Grinberg, Daniel, Urreizti, Roser, Rabionet, Raquel, Balcells, Susanna
Published in Journal of medical genetics (01.08.2024)
Published in Journal of medical genetics (01.08.2024)
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Journal Article
Rare Variant Association Analysis Uncovers Involvement of VNN2 in Stroke Outcome
Alcaide-Consuegra, Estefanía, Mola-Caminal, Marina, Escaramís, Georgia, Lazcano, Uxue, Fernández-Pérez, Isabel, Reig-Palou, Jaume, Jiménez-Balado, Joan, Giralt-Steinhauer, Eva, Cuadrado-Godia, Elisa, Ois, Angel, Rodríguez-Campello, Ana, Vallverdú-Prats, Marta, Medina-Dols, Aina, Jiménez, Carmen, Tur, Silvia, Díaz-Navarro, Rosa M., Bruque, Carlos David, Andreu-Somavilla, Nuria, González-Navarrete, Irene, Casals, Ferran, Vives-Bauzà, Cristòfol, Fernández-Cadenas, Israel, Jiménez-Conde, Jordi, Balcells, Susanna, Rabionet, Raquel
Published in Stroke (1970) (01.09.2025)
Published in Stroke (1970) (01.09.2025)
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Journal Article
Subcellular localization of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
Centeno-Pla, Monica, Alcaide-Consuegra, Estefania, Gibson, Sophie, Prat-Planas, Aina, Juan Diego Gutierrez-Avila, Grinberg, Daniel, Urreizti, Roser, Rabionet, Raquel, Balcells, Susanna
Published in bioRxiv (23.01.2024)
Published in bioRxiv (23.01.2024)
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Paper