Varaico: Literature-Extracted Genetic Variants

Gene:RNF213
Variant:p.E4893Q
Back to variants list

RNF213

NM_001256071.3:p.E4893Q

Associated Papers

Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.

Vilariño-Güell C et al.

Plos Genetics, 2019

31170158 (PubMed )
Supplement: pgen.1008180.s002.pdf

Rare RNF213 variants in the C-terminal region encompassing the RING-finger domain are associated with moyamoya angiopathy in Caucasians.

Guey S et al.

European Journal of Human Genetics : Ejhg, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."