Varaico: Literature-Extracted Genetic Variants

Gene:RNF213
Variant:p.R4810S
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RNF213

NM_001256071.3:p.R4810S

Associated Papers

Detailed phenotype of RNF213 p.R4810K variant identified by the Chinese patients with acute ischaemic stroke or transient ischaemic attack.

Zhou H et al.

Stroke and Vascular Neurology, 2023

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.

Zanoni P et al.

European Journal of Human Genetics : Ejhg, 2023

Mutations of RNF213 are responsible for sporadic cerebral cavernous malformation and lead to a mulberry-like cluster in zebrafish.

Lin J et al.

Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."