Article

Clinical relevance of zebrafish for gene variants testing. Proof-of-principle with <i>SMN1/</i> SMA

2025-01-31

Abstract excerpt

Spinal muscular atrophy (SMA) results from SMN1 gene loss-of-function (LOF), with disease severity directly linked to the level of remaining SMN protein. Nusinersen, risdiplam and onasemnogene abeparvovec are revolutionary treatments but should ideally be implemented before clinical symptoms appear. Because of this, prenatal and newborn screenings are increasingly used to identify common SMN1 mutations and patie...

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Literature Corpus work: cbfca0ab-7119-5d40-af6f-016274789f66
DOI: 10.1101/2025.01.30.632288

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