Varaico: Literature-Extracted Genetic Variants

Gene:EWSR1
Variant:p.P525L
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EWSR1

NM_005243.4:p.P525L

Associated Papers

Arginine methylation-enabled FUS phase separation with SMN contributes to neuronal granule formation.

Wang L et al.

Cell Reports, 2024

Genetics of Amyotrophic Lateral Sclerosis.

Ghasemi M et al.

Cold Spring Harbor Perspectives in Medicine, 2018

Amyotrophic lateral sclerosis: new insights into underlying molecular mechanisms and opportunities for therapeutic intervention.

Cozzolino M et al.

Antioxidants & Redox Signaling, 2012

Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations.

Neumann M et al.

Acta Neuropathologica, 2012

Structural and energetic basis of ALS-causing mutations in the atypical proline-tyrosine nuclear localization signal of the Fused in Sarcoma protein (FUS).

Zhang ZC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2012

FUS-related proteinopathies: lessons from animal models.

Lanson NA et al.

Brain Research, 2012

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation.

Mackenzie IR et al.

Acta Neuropathologica, 2011

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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."