Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.S235F
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ACTB

NM_001101.5:p.S235F

Associated Papers

PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.

Barak T et al.

Nature Medicine, 2021

Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

Shimotori M et al.

Human Mutation, 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."