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Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy

Hespe, S; Singer, ES; Reuter, C; Murray, B; Jordan, E; Chowns, J; Peters, S; Mayers, M; Gray, B; Hershberger, RE; et al. Hespe, S; Singer, ES; Reuter, C; Murray, B; Jordan, E; Chowns, J; Peters, S; Mayers, M; Gray, B; Hershberger, RE; Owens, AT; Semsarian, C; Waddell, A; Asatryan, B; Owens, E; Thaxton, C; Adduru, M-L; Anderson, K; Brown, EE; Hoffman-Andrews, L; Stafford, F; Bagnall, RD; Bronicki, L; Callewaert, B; Chahal, CAA; James, CA; Jarinova, O; Landstrom, AP; McNally, EM; Muiño-Mosquera, L; Parikh, V; Walsh, R; Wayburn, B; Ware, JS; Parker, BL; Porrello, ER; Elliott, DA; McNamara, JW; Ingles, J (2025) Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy. Circulation: Genomic and Precision Medicine, 18 (3). ISSN 2574-8300 https://doi.org/10.1161/circgen.124.004976
SGUL Authors: Walsh, Roderick Thomas

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Item Type: Article
Additional Information: Copyright © 2025, Wolters Kluwer Health. This is a non-final version of an article published in final form in Hespe, S; Singer, ES; Reuter, C; Murray, B; Jordan, E; Chowns, J; Peters, S; Mayers, M; Gray, B; Hershberger, RE; et al. (2025) Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy. Circulation: Genomic and Precision Medicine, 18 (3). https://doi.org/10.1161/circgen.124.004976
Keywords: cardiomyopathy, hypertrophic, exons, myocytes, cardiac, phenotype, protein kinases
SGUL Research Institute / Research Centre: Academic Structure > Cardiovascular & Genomics Research Institute
Academic Structure > Cardiovascular & Genomics Research Institute > Experimental Cardiology
Journal or Publication Title: Circulation: Genomic and Precision Medicine
ISSN: 2574-8300
Language: en
Publisher License: Publisher's own licence
Projects:
Project IDFunderFunder ID
106732National Heart Foundation of Australiahttps://doi.org/10.13039/501100001030
2016822National Health and Medical Research Councilhttps://doi.org/10.13039/501100000925
RE/18/4/34215British Heart Foundationhttps://doi.org/10.13039/501100000274
107192National Heart Foundation of Australiahttps://doi.org/10.13039/501100001030
MRF2024440Medical Research Future FundUNSPECIFIED
URI: https://openaccess.sgul.ac.uk/id/eprint/117630
Publisher's version: https://doi.org/10.1161/circgen.124.004976

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