Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.R206W
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ACTB

NM_001101.5:p.R206W

Associated Papers

High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.

Freire BL et al.

American Journal of Medical Genetics. Part A, 2022

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Sleven H et al.

American Journal of Human Genetics, 2017

Genetic polymorphisms in organic cation transporter 1 (OCT1) in Chinese and Japanese populations exhibit altered function.

Chen L et al.

The Journal of Pharmacology and Experimental Therapeutics, 2010

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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."