Varaico: Literature-Extracted Genetic Variants

Gene:RNF213
Variant:p.P3996_C3997delins
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RNF213

NM_001256071.3:p.P3996_C3997delins

Associated Papers

RNF213 loss-of-function promotes pathological angiogenesis in moyamoya disease via the Hippo pathway.

Ye F et al.

Brain : a Journal of Neurology, 2023

Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy.

Pinard A et al.

Neurology, 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."