Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.R1060Q
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ADAMTS13

NM_139027.6:p.R1060Q

Associated Papers

The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Zhao T et al.

Bmc Genomic Data, 2021

34789164 (PubMed )
Supplement: 12863_2021_1010_MOESM8_ESM.xlsx › clinvar

Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Pagliari MT et al.

Plos One, 2021

34662354 (PubMed )
Supplement: pone.0258675.s002.pdf

Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort.

Hampshire DJ et al.

Haematologica, 2010

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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."