Varaico: Literature-Extracted Genetic Variants

Gene:EWSR1
Variant:p.H517Q
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EWSR1

NM_005243.4:p.H517Q

Associated Papers

Insights into amyotrophic lateral sclerosis linked Pro525Arg mutation in the fused in sarcoma protein through in silico analysis and molecular dynamics simulation.

Chatterjee S et al.

Journal of Biomolecular Structure & Dynamics, 2021

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

Cozzolino M et al.

Antioxidants & Redox Signaling, 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

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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."