Varaico: Literature-Extracted Genetic Variants

Gene:RNF125
Variant:p.S163L
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RNF125

NM_017831.4:p.S163L

Associated Papers

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

Barzak FM et al.

Clinical Genetics, 2024

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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