Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.L183Q
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ADAMTS13

NM_139027.6:p.L183Q

Associated Papers

Lifesaving Diagnosis through Prenatal Genomic Sequencing.

Fennell AP et al.

The New England Journal of Medicine, 2025

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

Hereditary Thrombotic Thrombocytopenic Purpura in a 9-Month-old: Diagnosing and Managing an Ultra-rare Disorder.

Wyatt KD et al.

Journal of Pediatric Hematology/oncology, 2021

Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.

Kremer Hovinga JA et al.

Journal of Thrombosis and Haemostasis : Jth, 2018

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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."