Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS1
Variant:p.D258N
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KHDRBS1

NM_006559.3:p.D258N

Associated Papers

Phase-separated protein droplets of amyotrophic lateral sclerosis-associated p62/SQSTM1 mutants show reduced inner fluidity.

Faruk MO et al.

The Journal of Biological Chemistry, 2021

The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.

Foster AD et al.

Neural Regeneration Research, 2020

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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."