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Article

Relationship Between RNF213 p.R4810K and Echocardiographic Findings in Patients with Cerebrovascular Diseases: A Multicenter Prospective Cohort Study.

Journal of the American Heart Association - 4 Feb 2025

Noda Kotaro, Hattori Yorito, Nishii Tatsuya, Horinouchi Hiroki, Nakaoku Yuriko, Ogata Soshiro, Inagaki Yasunobu, Asano Ryotaro, Yoshimoto Takeshi, Nishimura Kunihiro, Ogo Takeshi, Nakaoka Yoshikazu, Ihara Masafumi

Abstract excerpt

BACKGROUND: RING finger protein 213 (RNF213) p.R4810K is an established risk factor for moyamoya disease and intracranial artery stenosis in East Asian people. Recent evidence suggests its potential association with extracranial cardiovascular diseases, including pulmonary hypertension. We hypothesized that insidious abnormal cardiac functions are detected in RNF213 p.R4810K carriers with cerebrovascular...

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Identifiers

PMID: 39868517
DOI: 10.1161/JAHA.124.036333
PMCID: PMC12074755

Genes

RNF213

Variants

Provenance

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

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