Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.G148C
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EXOSC3

NM_016042.4:p.G148C

Associated Papers

Modeling Pathogenic Variants in the RNA Exosome.

de Amorim J et al.

Rna & Disease (houston, Tex.), 2020

Nuclear mRNA Surveillance Mechanisms: Function and Links to Human Disease.

Singh P et al.

Journal of Molecular Biology, 2018

Mutations of EXOSC3/Rrp40p associated with neurological diseases impact ribosomal RNA processing functions of the exosome in S. cerevisiae.

Gillespie A et al.

Rna (new York, N.y.), 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."