Article

<i>RNF213</i> variation, a broader role in neurovascular disease in Caucasian and Japanese populations

2020-03-31

Abstract excerpt

Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease that predominantly affects East Asian populations. The major genetic mutation associated with MMD in Asian populations is the p.R4810K substitution in Ring Finger Protein 213 (RNF213). Interestingly, variants in the RNF213 gene have also been implicated in intracranial aneurysms (IA) in French-Canadian population, suggesting that variation in...

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Literature Corpus work: 735617c4-1f09-5b33-baca-d9c03468e676
DOI: 10.1101/2020.03.31.013078

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