Varaico: Literature-Extracted Genetic Variants

Gene:C9orf72
Variant:p.I114T
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C9orf72

NM_018325.5:p.I114T

Associated Papers

Facial-onset SOD1 amyotrophic lateral sclerosis: A case report and systematic review.

Milella G et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2026

Divergent Brain Network Activity in Asymptomatic C9orf72 and SOD1 Variant Carriers Compared With Established Amyotrophic Lateral Sclerosis.

Trubshaw M et al.

Human Brain Mapping, 2025

Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.

Corcia P et al.

European Journal of Neurology, 2025

Clinical trajectories of genetic variants in ALS: a European observational study within PRECISION-ALS.

McFarlane R et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025

Variability in SOD1-associated amyotrophic lateral sclerosis: geographic patterns, clinical heterogeneity, molecular alterations, and therapeutic implications.

Huang M et al.

Translational Neurodegeneration, 2024

Calculating variant penetrance from family history of disease and average family size in population-scale data.

Spargo TP et al.

Genome Medicine, 2022

36522764 (PubMed )
Supplement: 13073_2022_1142_MOESM1_ESM.pdf

TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in ALS.

Yu CH et al.

Cell, 2020

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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."