Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Q23L
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FUS

NM_004960.4:p.Q23L

Associated Papers

Pathology of three ALS patients with FUS variants, including one likely benign Q23L variant lacking FUS inclusions.

Stenvall E et al.

Human Molecular Genetics, 2025

Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS.

Schweingruber C et al.

Nature Communications, 2025

40389397 (PubMed )
Supplement: 41467_2025_59679_MOESM3_ESM.xlsx › FUS_Clinical_Data

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

Live Cell Imaging of ATP Levels Reveals Metabolic Compartmentalization within Motoneurons and Early Metabolic Changes in FUS ALS Motoneurons.

Zimyanin VL et al.

Cells, 2023

Phenotypes and malignancy risk of different FUS mutations in genetic amyotrophic lateral sclerosis.

Naumann M et al.

Annals of Clinical and Translational Neurology, 2019

Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes.

Forsberg K et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

The molecular pathogenesis of superoxide dismutase 1-linked ALS is promoted by low oxygen tension.

Keskin I et al.

Acta Neuropathologica, 2019

Deep targeted sequencing in pediatric acute lymphoblastic leukemia unveils distinct mutational patterns between genetic subtypes and novel relapse-associated genes.

Lindqvist CM et al.

Oncotarget, 2016

27590521 (PubMed )
Supplement: oncotarget-07-64071-s002.xlsx › Table_S4_diagnostic_mutations
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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."