The hidden burden of structural variants in neurodegenerative and neuromuscular disorders

Research paper from Europe PMC. Evidence status: source reported.

Published

2026-01-01

Source reference

PMC:PMC13722596

Jurisdiction

Not assessed

Licence

Bibliographic metadata only; article rights retained

Monahan G, Scriba C, Chew J, Baker J, Vo C, Folland C, Parmar J, Bryen S, Dofash L, Mullin S, Rick A, McNamara E, Donnelly J, Sharma T, Hock D, Stait T, Welland M, Thorburn D, Fraser H, Rodrigues M, Gelfand N, Davis M, Gooding R, Farrell M, Kiraly-Borri C, Ghia T, Warne R, Orr C, Stroud D, Yau W, Cairns A, McLean C, Fahey M, Roxburgh R, Lamont P, Ravenscroft G. · Sci Rep · research-article; journal article · Found via: Genomics England

Source: https://europepmc.org/article/PMC/PMC13722596. Captured 2026-11-02.

Limitations: Discovered through a Europe PMC keyword search for Genomics England. A mention is not a verified link to an access authorisation, project, dataset or clinical outcome. Preprints may not be peer reviewed.