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Article

A Phenotype-Based Score to Prioritize RNF213 p.R4810K Genotyping in Isolated Intracranial Steno-Occlusive Disease.

Translational stroke research - 1 Aug 2026

Jeong Dong Young, Kim Chulhong, Park Dougho, Kim Taeyeon, Ahn Sungho, Kim Bum Joon, Kwon Sun U

Abstract excerpt

BACKGROUND: Ring finger protein 213 (RNF213) p.R4810K is a genetic susceptibility factor for intracranial arteriopathies. In patients with isolated intracranial arterial steno-occlusive disease (ICAD) without Moyamoya disease (MMD), we developed a phenotype-based triage score to prioritize RNF213 genotyping by enriching the p.R4810K carriage probability. METHODS: We retrospectively analyzed 753 patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42541694
DOI: 10.1007/s12975-026-01472-3

Genes

RNF213
MMD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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