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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VWF

Variant:p.E1389Q

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VWF

NM_000552.5:p.E1389Q

hg38:chr12:6019253 C>G

Associated Papers

Crystal structure of ADAMTS13 CUB domains reveals their role in global latency.

Kim HJ et al.

Science Advances, 2021

33863735 (PubMed )

Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Bu F et al.

Journal of the American Society of Nephrology : Jasn, 2014

24029428 (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."