Varaico: Literature-Extracted Genetic Variants

Gene:RNF213
Variant:p.R4810G
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RNF213

NM_001256071.3:p.R4810G

Associated Papers

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

Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.

Hongo H et al.

Scientific Reports, 2020

Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study.

Liao X et al.

Bmc Medical Genetics, 2019

30925911 (PubMed )
Supplement: 12881_2019_788_MOESM2_ESM.xlsx › Sheet1

RNF213 Variant Diversity Predisposes Distinct Populations to Dissimilar Cerebrovascular Diseases.

Lin J et al.

Biomed Research International, 2018

Rare variants of RNF213 and moyamoya/non-moyamoya intracranial artery stenosis/occlusion disease risk: a meta-analysis and systematic review.

Liao X et al.

Environmental Health and Preventive Medicine, 2017

Disease Variant Landscape of a Large Multiethnic Population of Moyamoya Patients by Exome Sequencing.

Shoemaker LD et al.

G3 (bethesda, Md.), 2015

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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."