Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.L198P
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TNNI3

NM_000363.5:p.L198P

Associated Papers

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

Ross SB et al.

Circulation. Cardiovascular Genetics, 2017

28615295 (PubMed )
Supplement: circgenetics_circcvg-2016-001671_supp1.pdf

The functional significance of the last 5 residues of the C-terminus of cardiac troponin I.

Gilda JE et al.

Archives of Biochemistry and Biophysics, 2016

Inherited cardiomyopathies caused by troponin mutations.

Lu QW et al.

Journal of Geriatric Cardiology : Jgc, 2013

Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.

Doolan A et al.

Journal of Molecular and Cellular Cardiology, 2005

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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."