Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.L144P
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TNNI3

NM_000363.5:p.L144P

Associated Papers

AAV-TNNI3 rescues an experimental murine Tnni3 mutation resulting in thin filament mediated DCM.

Bushway PJ et al.

Journal of Molecular and Cellular Cardiology, 2026

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

Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.

Shakur R et al.

Npj Genomic Medicine, 2021

34127679 (PubMed )
Supplement: 41525_2021_204_MOESM1_ESM.pdf

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Hathaway J et al.

Bmc Cardiovascular Disorders, 2021

33673806 (PubMed )
Supplement: 12872_2021_1927_MOESM2_ESM.xlsx › Sheet1

A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3).

Pantou MP et al.

Bmc Medical Genetics, 2019

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1A

Troponins, intrinsic disorder, and cardiomyopathy.

Na I et al.

Biological Chemistry, 2016

Inherited cardiomyopathies caused by troponin mutations.

Lu QW et al.

Journal of Geriatric Cardiology : Jgc, 2013

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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."