Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.R177H
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ACTG1

NM_001614.5:p.R177H

Associated Papers

The formin INF2 in disease: progress from 10 years of research.

Labat-de-Hoz L et al.

Cellular and Molecular Life Sciences : Cmls, 2020

A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.

Bayraktar S et al.

Journal of the American Society of Nephrology : Jasn, 2020

Biochemical consequences of the cardiofunk (R177H) mutation in yeast actin.

Wen KK et al.

The Journal of Biological Chemistry, 2003

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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."