Varaico: Literature-Extracted Genetic Variants

Gene:RNF170
Variant:p.C107W
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RNF170

NM_030954.4:p.C107W

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG85

Novel stop-gain RNF170 variation detected in a Chinese family with adolescent-onset hereditary spastic paraplegia.

Fu JX et al.

Clinical Genetics, 2023

A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature.

Chouery E et al.

Neurogenetics, 2022

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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."