Varaico: Literature-Extracted Genetic Variants

Gene:FTH1
Variant:p.E163K
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FTH1

NM_002032.3:p.E163K

Associated Papers

Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT.

Manning EP et al.

Journal of Molecular Biology, 2012

Role of troponin T in disease.

Gomes AV et al.

Molecular and Cellular Biochemistry, 2004

Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.

Palm T et al.

Biophysical Journal, 2001

Invited Review: pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation.

Hernandez OM et al.

Journal of Applied Physiology (bethesda, Md. : 1985), 2001

Animal models of hypertrophic cardiomyopathy.

Maass A et al.

Current Opinion in Cardiology, 2000

Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

Szczesna D et al.

The Journal of Biological Chemistry, 2000

Molecular mechanisms regulating the myofilament response to Ca2+: implications of mutations causal for familial hypertrophic cardiomyopathy.

Palmiter KA et al.

Basic Research in Cardiology, 1997

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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."