Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.L1014fs
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MYBPC3

NM_000256.3:p.L1014fs

Associated Papers

Reassessing the unifying hypothesis for hypercontractility caused by myosin mutations in hypertrophic cardiomyopathy.

Spudich JA et al.

The Embo Journal, 2024

The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.

Sepp R et al.

Diagnostics (basel, Switzerland), 2022

35626289 (PubMed )
Supplement: diagnostics-12-01132-s001.zip › diagnostics-1699952-supplementary.pdf

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin.

Toepfer CN et al.

Science Translational Medicine, 2019

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