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The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27.
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Loss of Filamin C Is Catastrophic for Heart Function.
Circulation. 2020 Mar 10;141(10):869-871. doi: 10.1161/CIRCULATIONAHA.119.044061. Epub 2020 Mar 9.
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A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20.
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Ube2v1 Positively Regulates Protein Aggregation by Modulating Ubiquitin Proteasome System Performance Partially Through K63 Ubiquitination.
Circ Res. 2020 Mar 27;126(7):907-922. doi: 10.1161/CIRCRESAHA.119.316444. Epub 2020 Feb 21.
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Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy.
Circulation. 2020 Mar 10;141(10):828-842. doi: 10.1161/CIRCULATIONAHA.119.042339. Epub 2020 Jan 27.
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Cellular quality control by the ubiquitin-proteasome system and autophagy.
Science. 2019 Nov 15;366(6467):818-822. doi: 10.1126/science.aax3769. Epub 2019 Nov 14.
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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.
Clin Genet. 2019 Oct;96(4):317-329. doi: 10.1111/cge.13594. Epub 2019 Jul 18.
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HspB1 phosphorylation regulates its intramolecular dynamics and mechanosensitive molecular chaperone interaction with filamin C.
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Dilated cardiomyopathy.
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