Varaico: Literature-Extracted Genetic Variants

Gene:RNF216
Variant:p.R517*
Back to variants list

RNF216

NM_207111.4:p.R517*

Associated Papers

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

Wu C et al.

Journal of Medical Genetics, 2024

The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.

Wu C et al.

Brain : a Journal of Neurology, 2023

36380532 (PubMed )
Supplement: awac426_supplementary_data.pdf

A novel mutation in RNF216 gene in a Turkish case with Gordon Holmes syndrome.

Durmaz Çelik N et al.

Bmc Medical Genomics, 2023

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."