Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.R145G
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PRH1

NM_001393989.1:p.R145G

Associated Papers

Hypertrophic cardiomyopathy mutations increase myofilament Ca2+ buffering, alter intracellular Ca2+ handling, and stimulate Ca2+-dependent signaling.

Robinson P et al.

The Journal of Biological Chemistry, 2018

29760186 (PubMed )
Supplement: supp_RA118.002081_135532_2_supp_133838_p8gxk6.pdf

Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene.

Gomes AV et al.

Molecular and Cellular Biochemistry, 2004

Inherited cardiomyopathies as a troponin disease.

Harada K et al.

The Japanese Journal of Physiology, 2004

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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."