Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.R288H
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TNNT2

NM_001276345.2:p.R288H

Associated Papers

Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.

Bonaventura J et al.

Journal of the American Heart Association, 2024

38757491 (PubMed )
Supplement: JAH3-13-e033565-s001.pdf

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S10

Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.

Micheu MM et al.

Diagnostics (basel, Switzerland), 2020

Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.

Dejgaard LA et al.

Data in Brief, 2017

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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."