Varaico: Literature-Extracted Genetic Variants

Gene:RNF216
Variant:p.D130V
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RNF216

NM_207111.4:p.D130V

Associated Papers

Emerging evidence of coding mutations in the ubiquitin-proteasome system associated with cerebellar ataxias.

Ronnebaum SM et al.

Human Genome Variation, 2014

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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."