Varaico: Literature-Extracted Genetic Variants

Gene:RBFOX3
Variant:p.Q31Q
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RBFOX3

NM_001350451.2:p.Q31Q

Associated Papers

C9orf72-related amyotrophic lateral sclerosis-frontotemporal dementia and links to the DNA damage response: a systematic review.

Almalki S et al.

Frontiers in Molecular Neuroscience, 2025

41341655 (PubMed )
Supplement: Table_1.docx

5-Hydroxytryptamine: a potential therapeutic target in amyotrophic lateral sclerosis.

Jiang SS et al.

Neural Regeneration Research, 2023

Unique molecular features and cellular responses differentiate two populations of motor cortical layer 5b neurons in a preclinical model of ALS.

Moya MV et al.

Cell Reports, 2022

Nuclear localization of human SOD1 and mutant SOD1-specific disruption of survival motor neuron protein complex in transgenic amyotrophic lateral sclerosis mice.

Gertz B et al.

Journal of Neuropathology and Experimental Neurology, 2012

Neuron-specific expression of mutant superoxide dismutase is sufficient to induce amyotrophic lateral sclerosis in transgenic mice.

Jaarsma D et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

Up-regulation of protein chaperones preserves viability of cells expressing toxic Cu/Zn-superoxide dismutase mutants associated with amyotrophic lateral sclerosis.

Bruening W et al.

Journal of Neurochemistry, 1999

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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."