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Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations.
Fomin A, Gärtner A, Cyganek L, Tiburcy M, Tuleta I, Wellers L, Folsche L, Hobbach AJ, von Frieling-Salewsky M, Unger A, Hucke A, Koser F, Kassner A, Sielemann K, Streckfuß-Bömeke K, Hasenfuss G, Goedel A, Laugwitz KL, Moretti A, Gummert JF, Dos Remedios CG, Reinecke H, Knöll R, van Heesch S, Hubner N, Zimmermann WH, Milting H, Linke WA. Fomin A, et al. Among authors: sielemann k. Sci Transl Med. 2021 Nov 3;13(618):eabd3079. doi: 10.1126/scitranslmed.abd3079. Epub 2021 Nov 3. Sci Transl Med. 2021. PMID: 34731013