Varaico: Literature-Extracted Genetic Variants

Gene:ADAMTS13
Variant:p.E439*
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ADAMTS13

NM_139027.6:p.E439*

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

A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.

Almazni I et al.

Human Mutation, 2020

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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."