Genetic & Genomic MedicineJournal of Medical GeneticsPeer-reviewed
Revisiting the UK Genetic Severity Score for NF2: a proposal for adding functional information
Núria Catasús, B. García, Iván Galván‐Femenía…·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.
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