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Article

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

17 Nov 2021

Abstract excerpt

BACKGROUND: Upshaw-Schulman syndrome (USS) is an autosomal recessive disease characterized by thrombotic microangiopathies caused by pathogenic variants in ADAMTS13. We aimed to (1) curate the ADAMTS13 gene pathogenic variant dataset and (2) estimate the carrier frequency and genetic prevalence of USS using Genome Aggregation Database (gnomAD) data. METHODS: Studies were comprehensively retrieved. All previously...

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PMID: 34789164
DOI: 10.1186/s12863-021-01010-0

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