Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC2
Variant:p.L14P
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EXOSC2

NM_014285.7:p.L14P

Associated Papers

Comparative analyses of disease-linked missense mutations in the RNA exosome modeled in budding yeast reveal distinct functional consequences in translation.

Sterrett MC et al.

Biorxiv : the Preprint Server for Biology, 2025

37904946 (PubMed )
Supplement: media-1.pdf

Modeling Pathogenic Variants in the RNA Exosome.

de Amorim J et al.

Rna & Disease (houston, Tex.), 2020

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