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Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population

1 Dec 2021

Abstract excerpt

Objective This study aimed to determine the frequency of pathogenic NOTCH3 variants among Koreans. Methods In this cross-sectional study, we queried for pathogenic NOTCH3 variants in 2 Korean public genome databases: the Korean Reference Genome Database (KRGDB) and the Korean Genome Project (Korea1K). In addition, we screened the 3 most common pathogenic NOTCH3 variants (p.Arg75Pro, p.Arg544Cys, and p.Arg578Cys)...

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PMID: 34881353
DOI: 10.1212/nxg.0000000000000639

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