Article

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

2021-03-01

Abstract excerpt

<h4>Purpose</h4> Upshaw–Schulman syndrome (USS) is an autosomal recessive disease of thrombotic microangiopathy, caused by pathogenic variants in ADAMTS13. We aimed to (1) perform data mining pathogenicity of ADAMTS13 variants, (2) estimate carrier frequency and genetic prevalence of USS from gnomAD data, and (3) curated ADAMTS13 gene pathogenic variants dataset. <h4>Methods</h4> PubMed and Scopus were comprehen...

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Literature Corpus work: fb66dc5b-723d-5c63-8397-76e0047c20b7
DOI: 10.1101/2021.02.28.433213

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