Varaico: Literature-Extracted Genetic Variants

Gene:RNF213
Variant:p.S4842L
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RNF213

NM_001256071.3:p.S4842L

Associated Papers

Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.

Liu ZX et al.

Jama Network Open, 2022

36484990 (PubMed )
Supplement: jamanetwopen-e2245836-s002.xlsx › Table_S5

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

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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."