Varaico: Literature-Extracted Genetic Variants

Gene:PRH1
Variant:p.R145W
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PRH1

NM_001393989.1:p.R145W

Associated Papers

Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.

Yang Z et al.

Reviews in Cardiovascular Medicine, 2022

Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.

Cimiotti D et al.

International Journal of Molecular Sciences, 2021

Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.

Sequeira V et al.

Circulation Research, 2013

Inherited cardiomyopathies as a troponin disease.

Harada K et al.

The Japanese Journal of Physiology, 2004

Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.

Wigley WC et al.

Biochemistry, 1994

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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."