Varaico: Literature-Extracted Genetic Variants

Gene:RNF125
Variant:p.R174C
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RNF125

NM_017831.4:p.R174C

Associated Papers

A novel RNF125 variant associated with Tenorio syndrome alters ubiquitin chain binding.

Barzak FM et al.

Clinical Genetics, 2024

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

Tenorio-Castaño JA et al.

Clinical Genetics, 2021

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

A new overgrowth syndrome is due to mutations in RNF125.

Tenorio J et al.

Human Mutation, 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."