Varaico: Literature-Extracted Genetic Variants

Gene:TNNT2
Variant:p.K93Q
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TNNT2

NM_001001430.3:p.K93Q

Associated Papers

Focus on cardiac troponin complex: From gene expression to cardiomyopathy.

Ragusa R et al.

Genes & Diseases, 2024

Genetic Screening Reveals Heterogeneous Clinical Phenotypes in Patients with Dilated Cardiomyopathy and Troponin T2 Variants.

Weis A et al.

Journal of Personalized Medicine, 2023

37108997 (PubMed )
Supplement: jpm-13-00611-s001.zip › jpm-2274209-supplementary.pdf

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
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