Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.R256H
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ACTB

NM_001101.5:p.R256H

Associated Papers

Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations.

Feng X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38669183 (PubMed )
Supplement: pnas.2310283121.sapp.pdf

A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.

Wang X et al.

Haematologica, 2022

35142151 (PubMed )
Supplement: 2021_279908_WANG_TABS3.xlsx › V2

Insights into the effects of disease-causing mutations in human actins.

Rubenstein PA et al.

Cytoskeleton (hoboken, N.j.), 2014

Phenotypes induced by NM causing alpha-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes.

Vandamme D et al.

Bmc Research Notes, 2009

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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."