Varaico: Literature-Extracted Genetic Variants

Gene:RTN2
Variant:p.T314fs
Back to variants list

RTN2

NM_005619.5:p.T314fs

Associated Papers

A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.

Lamilla J et al.

Diagnostics (basel, Switzerland), 2025

39941308 (PubMed )
Supplement: diagnostics-15-00376-s001.zip › diagnostics-3372801-supplementary.xlsx › Hoja1

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S9

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

Tian W et al.

Annals of Clinical and Translational Neurology, 2022

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."