Varaico: Literature-Extracted Genetic Variants

Gene:OPTN
Variant:p.F226L
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OPTN

NM_001008212.2:p.F226L

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_iPSC-MCs_D30

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

Prove pathogenicity of OPTN variants before establishing a causal relation with amyotrophic lateral sclerosis.

Finsterer J et al.

Neurobiology of Aging, 2021

Four novel optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in Mainland China.

Yang L et al.

Neurobiology of Aging, 2021

Theme 2 Genetics and genomics.

Roggenbuck J et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 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."