Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R514Splc
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FUS

NM_004960.4:p.R514Splc

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

Investigation of a Fused in Sarcoma Splicing Mutation in a Chinese Amyotrophic Lateral Sclerosis Patient.

Yang W et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2023

A novel splice site FUS mutation in a familial ALS case: effects on protein expression.

Canosa A et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

Effects of intracellular calcium accumulation on proteins encoded by the major genes underlying amyotrophic lateral sclerosis.

De Marco G et al.

Scientific Reports, 2022

35013445 (PubMed )
Supplement: 41598_2021_4267_MOESM1_ESM.pdf

Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.

Bartoletti-Stella A et al.

Journal of Neurology, 2021

33770234 (PubMed )
Supplement: 415_2021_10521_MOESM1_ESM.docx
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