Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E114Q
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TPM1

NM_001018005.2:p.E114Q

Associated Papers

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

Identification of a novel missense mutation in the TPM1 gene via exome sequencing in a Chinese family with dilated cardiomyopathy: A case report and literature review.

Man Y et al.

Medicine, 2022

Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis.

Seidel F et al.

Circulation. Genomic and Precision Medicine, 2021

34213952 (PubMed )
Supplement: hcg-14-e003250-s001.pdf

RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

Al-Wakeel-Marquard N et al.

Journal of the American Heart Association, 2019

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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."