NeuroscienceEMBO Molecular MedicinePeer-reviewed
Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with SMN1/SMA.
Brett William Stringer, Yougang Zhang, Afsaneh Taghipour‐Sheshdeh…·Jean Giacomotto
The paper uses a zebrafish model to test the pathogenicity of SMN1 variants in SMA patients, showing that two variants were non-pathogenic and avoiding costly treatments.
4 citations