Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC2
Variant:p.G58V
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EXOSC2

NM_014285.7:p.G58V

Associated Papers

Humanized Saccharomyces cerevisiae provides a facile and effective tool to identify damaging human variants that cause exosomopathies.

Ahammed KS et al.

G3 (bethesda, Md.), 2025

A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex.

Sterrett MC et al.

Rna (new York, N.y.), 2021

34162742 (PubMed )
Supplement: supp_078618.120_Supplemental_Table_S3.pdf
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