Varaico: Literature-Extracted Genetic Variants

Gene:RTN2
Variant:p.R60fs
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RTN2

NM_005619.5:p.R60fs

Associated Papers

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

Tian W et al.

Annals of Clinical and Translational Neurology, 2022

Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.

Zhang X et al.

Ebiomedicine, 2022

35785618 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_2b

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.

Montenegro G et al.

The Journal of Clinical Investigation, 2012

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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."