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Article

Prevalence and Clinical Characteristics of Heterozygous RNF213 p.Arg4810Lys Variant Carriers Diagnosed With Chronic Thromboembolic Pulmonary Hypertension.

Journal of the American Heart Association - 6 Aug 2024

Kiko Takatoyo, Asano Ryotaro, Ishibashi Tomohiko, Endo Hiroyuki, Nishi Naruhiro, Hayashi Hiroya, Ueda Jin, Aoki Tatsuo, Tsuji Akihiro, Nakaoka Yoshikazu, Ogo Takeshi

Abstract excerpt

BACKGROUND: Ring finger protein 213 (RNF213) p.Arg4810Lys is a susceptibility gene for moyamoya disease, peripheral pulmonary artery stenosis (PPS), and other vascular diseases and thrombosis. We investigated the prevalence and clinical characteristics of RNF213 variant carriers diagnosed with chronic thromboembolic pulmonary hypertension (CTEPH). METHODS AND RESULTS: We retrospectively analyzed the prevalence of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39056331
DOI: 10.1161/JAHA.124.035009
PMCID: PMC11964042

Genes

RNF213

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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