Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.G507delFs
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FUS

NM_004960.4:p.G507delFs

Associated Papers

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

FUS mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations.

Lu T et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

35232295 (PubMed )
Supplement: supplement_1.docx

A case of juvenile-onset amyotrophic lateral sclerosis with a de novo frameshift FUS gene mutation presenting with bilateral abducens palsy.

Wu Y et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

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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."