Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E98K
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TPM1

NM_001018005.2:p.E98K

Associated Papers

Genetic Profiling and Phenotype Spectrum in a Chinese Cohort of Pediatric Cardiomyopathy Patients.

Xing G et al.

Journal of Cardiovascular Development and Disease, 2025

Novel Mutation Glu98Lys in Cardiac Tropomyosin Alters Its Structure and Impairs Myocardial Relaxation.

Matyushenko AM et al.

International Journal of Molecular Sciences, 2023

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."