Varaico: Literature-Extracted Genetic Variants

Gene:NEMF
Variant:p.I553T
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NEMF

NM_004713.6:p.I553T

Associated Papers

NEMF mutations in mice illustrate how Importin-β specific nuclear transport defects recapitulate neurodegenerative disease hallmarks.

Plessis-Belair J et al.

Plos Genetics, 2024

39312574 (PubMed )
Supplement: pgen.1011411.s020.docx

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.

Martin PB et al.

Nature Communications, 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."