Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R522S
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FUS

NM_004960.4:p.R522S

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 as a cause of familial Amyotrophic lateral sclerosis, a case report in a pregnant patient.

Bazán-Rodríguez L et al.

Neurocase, 2022

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