Varaico: Literature-Extracted Genetic Variants

Gene:APOLD1
Variant:p.R49H
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APOLD1

NM_030817.3:p.R49H

Associated Papers

APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.

Stritt S et al.

Haematologica, 2023

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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."