Varaico: Literature-Extracted Genetic Variants

Gene:RNF216
Variant:p.G138delFs
Back to variants list

RNF216

NM_207111.4:p.G138delFs

Associated Papers

Ring finger protein 216 loss-of-function induces white matter hyperintensities by inhibiting oligodendroglia proliferation.

Xu W et al.

Cell Biochemistry and Function, 2024

Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.

Wu C et al.

Journal of Medical Genetics, 2024

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

Ronnebaum SM et al.

Human Genome Variation, 2014

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.

Margolin DH et al.

The New England Journal of Medicine, 2013

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."