Varaico: Literature-Extracted Genetic Variants

Gene:TIA1
Variant:p.P352L
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TIA1

NM_022173.4:p.P352L

Associated Papers

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.

Yuan L et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Axonopathy Underlying Amyotrophic Lateral Sclerosis: Unraveling Complex Pathways and Therapeutic Insights.

Luan T et al.

Neuroscience Bulletin, 2024

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Feng M et al.

Nature Communications, 2024

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

RelCurator: a text mining-based curation system for extracting gene-phenotype relationships specific to neurodegenerative disorders.

Lee H et al.

Genes & Genomics, 2023

Two predicted α-helices within the prion-like domain of TIAR-1 play a crucial role in its association with stress granules in Caenorhabditis elegans.

Fuentes-Jiménez DA et al.

Frontiers in Cell and Developmental Biology, 2023

No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patients.

Baradaran-Heravi Y et al.

Neurobiology of Aging, 2018

Mutation analysis of the TIA1 gene in Chinese patients with amyotrophic lateral sclerosis and frontotemporal dementia.

Yuan Z 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."