Varaico: Literature-Extracted Genetic Variants

Gene:EPHA1
Variant:p.V514I
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EPHA1

NM_005232.5:p.V514I

Associated Papers

Missense mutations of the ephrin receptor EPHA1 associated with Alzheimer's disease disrupt receptor signaling functions.

Matsumoto M et al.

The Journal of Biological Chemistry, 2025

Actin cytoskeleton dynamics in stem cells from autistic individuals.

Griesi-Oliveira K et al.

Scientific Reports, 2018

Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.

Vardarajan BN et al.

Annals of Neurology, 2015

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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."