Revisiting the UK Genetic Severity Score for NF2: a proposal for adding functional information
Núria Catasús, B. García, Iván Galván‐Femenía, Adrià Plana‐Pla, Alejandro Negro, Inma Rosas, Andrea Ros, Emilio Amilibia, Juan Luís Becerra, Cristina Hostalot, Francesc Roca-Ribas, Isabel Bielsa, Conxi Lázaro, Rafael de Cid, Eduard Serra, , Elisabeth Castellanos
The paper validates the UK NF2 Genetic Severity Score in a Spanish cohort and proposes a revised version incorporating functional assays to improve prediction of clinical outcomes for mild and moderate phenotypes.
Journal of Medical Genetics · Aug 4, 2021Peer-reviewedGenetic & Genomic Medicine