In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease

Authors	Breyer Maximilian, Grüner Julia, Klein Alexandra, Finke Laura, Klug Katharina, Sauer Markus, Üçeyler Nurcan
Journal	Molecular Genetics and Metabolism Reports
Publication Date	2024-03-00
DOI	10.1016/j.ymgmr.2023.101029