Varaico: Literature-Extracted Genetic Variants

Gene:P3H3
Variant:p.R120G
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P3H3

NM_014262.5:p.R120G

Associated Papers

Structural and mechanistic implications of metal binding in the small heat-shock protein αB-crystallin.

Mainz A et al.

The Journal of Biological Chemistry, 2012

Single molecule force spectroscopy of the cardiac titin N2B element: effects of the molecular chaperone alphaB-crystallin with disease-causing mutations.

Zhu Y et al.

The Journal of Biological Chemistry, 2009

Global expression profiling identifies a novel biosignature for protein aggregation R120GCryAB cardiomyopathy in mice.

Rajasekaran NS et al.

Physiological Genomics, 2008

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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."