Detailed phenotype of RNF213 p.R4810K variant identified by the Chinese patients with acute ischaemic stroke or transient ischaemic attack
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DOI: 10.1136/svn-2022-002276
Abstract: Background and purpose The ring finger protein 213 gene (RNF213) p.R4810K variant increased the risk of acute ischaemic stroke (AIS) attributable to intracranial arterial stenosis (ICAS) in the Japanese and Korean populations. In this study,… read more here.
Keywords: rnf213 r4810k; r4810k variant; chinese patients; r4810k ... See more keywords
Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease
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DOI: 10.1212/wnl.0000000000008901
Abstract: Objective Precise genetic analyses were conducted with ring finger protein 213 (RNF213) in relation to a particular clinical phenotype in Chinese patients with moyamoya disease (MMD) to determine whether heterozygosity is responsible for the early-onset… read more here.
Keywords: phenotype chinese; rnf213; phenotype; r4810k ... See more keywords