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A comprehensive framework for the interpretation of TTN missense variants

Lookup NU author(s): Professor Giorgio TascaORCiD, Dr Tara Reeves

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Author(s): Di Feo MF, Rees M, Lillback V, Kho AL, Meybatova A, Holt M, Jungbluth H, Muntoni F, Baranello G, Sarkozy A, Fiorillo C, Baratto S, Bruno C, Traverso M, Iacomino M, Pedemonte M, Brolatti N, Faravelli F, Zara F, Mandara GML, Beggs AH, Genetti CA, Barraza-Flores P, Rodolico C, Messina S, Schnabel F, Balogh I, Szakszon K, Sarv S, Ounap K, Ricci FS, Mussa A, Malfatti E, Bertini ES, D'Amico A, Diodato D, Catteruccia M, Ravenscroft G, Johari M, Kurbatov SA, Chausova P, Murtazina A, Kuchina A, Shchagina O, Drakos M, Spilioti M, Evangeliou AE, Zaganas I, Zhong H, Luo S, Merlini L, Nguyen C-T-E, Tasca G, Reeves T, Morner S, Danielsson O, Udd B, Gautel M, Savarese M

Publication type: Article

Publication status: Published

Journal: Genome Medicine

Year: 2026

Volume: 18

Online publication date: 26/02/2026

Acceptance date: 28/01/2026

Date deposited: 13/04/2026

ISSN (electronic): 1756-994X

Publisher: Springer Nature

URL: https://doi.org/10.1186/s13073-026-01605-1

DOI: 10.1186/s13073-026-01605-1

Data Access Statement: All genetic variants reported in this study have been submitted to ClinVar and are available under accession numbers SCV007493626–SCV007493673.

PubMed id: 41749372

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