Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.R639C
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ADAMTS13

NM_139027.6:p.R639C

Associated Papers

Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.

Yadegari H et al.

Thrombosis and Haemostasis, 2026

The genomic landscape of lung cancer in never-smokers from the Women's Health Initiative.

Moorthi S et al.

Jci Insight, 2024

39052387 (PubMed )
Supplement: jciinsight-9-174643-s252.xlsx › Table_S4

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_MOESM9_ESM.xlsx › gnomAD
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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."