Varaico: Literature-Extracted Genetic Variants

Gene:ACTB
Variant:p.E207Q
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ACTB

NM_001101.5:p.E207Q

Associated Papers

Pervasive mislocalization of pathogenic coding variants underlying human disorders.

Lacoste J et al.

Cell, 2024

Pervasive mislocalization of pathogenic coding variants underlying human disorders.

Lacoste J et al.

Biorxiv : the Preprint Server for Biology, 2023

Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS).

Leschziner GD et al.

Epilepsy Research, 2011

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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."