Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.L111R
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OPTN

NM_001008212.2:p.L111R

Associated Papers

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis.

Manini A et al.

Annals of Clinical and Translational Neurology, 2025

40276954 (PubMed )
Supplement: ACN3-12-1499-s001.docx

Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats.

Chio A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2022

36008116 (PubMed )
Supplement: jnnp-2022-329376supp001.pdf
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