Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.Q210R
Back to variants list

TPM1

NM_001018005.2:p.Q210R

Associated Papers

Genetic Spectrum, Clinical Characteristics, and Molecular Pathogenesis of Hypertrophic Cardiomyopathy Requiring Heart Transplantation.

Andreeva S et al.

Journal of Cardiovascular Development and Disease, 2025

Clinical Features and Prospective Outcomes of Thin-Filament Hypertrophic Cardiomyopathy: Intrinsic Data and Comparative Insights from Other Cohorts.

Chumakova OS et al.

Journal of Clinical Medicine, 2025

39941537 (PubMed )
Supplement: jcm-14-00866-s001.zip › jcm-3425548-supplementary.pdf

Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death.

Azimi A et al.

Esc Heart Failure, 2024

Impact of Genetic Testing on the Diagnosis, Management, and Prognosis of Hypertrophic Cardiomyopathy: A Systematic Review.

McBenedict B et al.

Cureus, 2024

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf

Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.

Chumakova OS et al.

Genes, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."