Varaico: Literature-Extracted Genetic Variants

Gene:RNF213
Variant:p.R4927Q
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RNF213

NM_001256071.3:p.R4927Q

Associated Papers

Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease.

Nomura S et al.

Translational Stroke Research, 2024

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

Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.

Nguyen Hoang VA et al.

Molecular Oncology, 2023

36495126 (PubMed )
Supplement: MOL2-17-598-s002.xlsx › SupTable_S5_Variants_in_FFPE

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Ognibene M et al.

Cancers, 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

Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease.

Jang MA et al.

Plos One, 2017

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.

Zhou S et al.

American Journal of Human Genetics, 2016

Systematic Validation of RNF213 Coding Variants in Japanese Patients With Moyamoya Disease.

Moteki Y et al.

Journal of the American Heart Association, 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."