Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R518I
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FUS

NM_004960.4:p.R518I

Associated Papers

M6A reduction relieves FUS-associated ALS granules.

Di Timoteo G et al.

Nature Communications, 2024

Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant.

Martello F et al.

Stem Cell Research, 2021

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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."