Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.V147L
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TNNI3

NM_000363.5:p.V147L

Associated Papers

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

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

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

Cecconi M et al.

International Journal of Molecular Medicine, 2016

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