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An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten.

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Title: An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten.
Authors: Leinhos, Lisa1 (AUTHOR), Robinson, Paul1 (AUTHOR), Poloni, Giulia1 (AUTHOR), Broadway-Stringer, Sophie2 (AUTHOR), Beglov, Julia1 (AUTHOR), Lokman, Adam B.1,3 (AUTHOR), Douglas, Gillian1 (AUTHOR), Nuthay, Sajjad2 (AUTHOR), Fonseka, Oveena1 (AUTHOR), Schmid, Manuel1 (AUTHOR), Singer, Evie2 (AUTHOR), Hooper, Charlotte1 (AUTHOR), Thomson, Kate1 (AUTHOR), Bagnall, Richard D.4,5 (AUTHOR), Ingles, Jodie6 (AUTHOR), Semsarian, Christopher4,5,7 (AUTHOR), Ormondroyd, Elizabeth1,8 (AUTHOR), Toepfer, Christopher N.1 (AUTHOR), Davies, Benjamin9 (AUTHOR), Redwood, Charles1 (AUTHOR)
Source: Scientific Reports. 3/24/2025, Vol. 15 Issue 1, p1-14. 14p.
Database: Academic Search Ultimate
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ISSN:20452322
DOI:10.1038/s41598-025-94371-w