Varaico: Literature-Extracted Genetic Variants

Gene:TNPO1
Variant:p.Y526C
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TNPO1

NM_002270.4:p.Y526C

Associated Papers

Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.

Naumann M et al.

Nature Communications, 2018

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.

Corcia P et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017

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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."