Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.V719_C724del6
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ADAMTS13

NM_139027.6:p.V719_C724del6

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_MOESM2_ESM.xlsx › known

Characterization and treatment of congenital thrombotic thrombocytopenic purpura.

Alwan F et al.

Blood, 2019

A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom.

Camilleri RS et al.

Journal of Thrombosis and Haemostasis : Jth, 2012

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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."