Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.Q79*
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OPTN

NM_001008212.2:p.Q79*

Associated Papers

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

Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

Bartoletti-Stella A et al.

Journal of Neurology, 2021

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.

Bartoletti-Stella A et al.

Neurobiology of Aging, 2018

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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."