Varaico: Literature-Extracted Genetic Variants

Gene:RNF125
Variant:p.R49P
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RNF125

NM_017831.4:p.R49P

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

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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."