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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACTRT2

Variant:p.W338fs

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ACTRT2

NM_080431.5:p.W338fs

hg38:chr1:3022698 T>TN

Associated Papers

Precision medicine identifies a pathogenic variant of the ITGA2B gene responsible for Glanzmann's thrombasthenia in a cat.

Li RHL et al.

Journal of Veterinary Internal Medicine, 2020

32935881 (PubMed )

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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."