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International Journal of Molecular Sciences|April 27, 2024
Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln <i>GLA</i> Variant in Anderson-Fabry DiseaseRocío Blanco, Yolanda Rico-Ramírez, Álvaro Hermida-Ameijeiras, et al.Scientific Reports|August 13, 2025
Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosisMarc Ventayol-Guirado, Eugenia Cisneros-Barroso, Maria Antonia Ribot-Sanso, et al.Pageof 2