Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.R120G
Back to variants list

OPTN

NM_001008212.2:p.R120G

Associated Papers

[Overlap of neuropathy and myopathy genes: convergence of two entities].

Stojkovic T et al.

Medecine Sciences : M/s, 2025

ALS Identified: two-year findings from a sponsored ALS genetic testing program.

Goutman SA et al.

Annals of Clinical and Translational Neurology, 2024

39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification

AUTOPHAGY IN THE EYE: FROM PHYSIOLOGY TO PATHOPHYSOLOGY.

Liton PB et al.

Autophagy Reports, 2023

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."