Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.E399*
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OPTN

NM_001008212.2:p.E399*

Associated Papers

Clinical and genetic determinants of survival in amyotrophic lateral sclerosis patients from North India.

Khurana S et al.

Brain Communications, 2026

Diagnostic Spectrum in an "Atypical" Atypical Parkinsonism Syndrome Cohort: A Single Center Experience.

Katragadda P et al.

Journal of Movement Disorders, 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

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

A novel OPTN variant causing PSP-CBS-like phenotype in familial amyotrophic lateral sclerosis.

Stezin A et al.

Parkinsonism & Related Disorders, 2019

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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."