Varaico: Literature-Extracted Genetic Variants

Gene:RTN2
Variant:p.R35*
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RTN2

NM_005619.5:p.R35*

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG12

RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

Maroofian R et al.

Brain : a Journal of Neurology, 2024

38527963 (PubMed )
Supplement: awae091_supplementary_data.zip › brain-2023-01753-File007.xlsx › Table_of_Variants

New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.

Tian W et al.

Annals of Clinical and Translational Neurology, 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."