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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPTN

Variant:p.Q547*

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OPTN

NM_001008212.2:p.Q547*

hg38:chr10:13136771 C>T

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

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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."