Article

A Budding Yeast Model for Human Disease Mutations in the <i>EXOSC2</i> Cap Subunit of the RNA Exosome

2020-12-07

Abstract excerpt

RNA exosomopathies, a growing family of tissue-specific diseases, are linked to missense mutations in genes encoding the structural subunits of the conserved 10-subunit exoribonuclease complex, the RNA exosome. Such mutations in the cap subunit gene EXOSC2 cause the novel syndrome SHRF ( S hort stature, H earing loss, R etinitis pigmentosa and distinctive F acies). In contrast, exosomopathy mutations in the c...

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Literature Corpus work: 29e6afc2-3c87-5a8e-bfc0-869fdd570324
DOI: 10.1101/2020.12.06.413658

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