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Biallelic protein truncating <i>EXOSC6</i> variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay

2026-08-02

Abstract excerpt

<h4>ABSTRACT</h4> The multisubunit RNA exosome complex provides an essential, highly conserved multifunctional 3’ to 5’ exoribonuclease activity in the eukaryotic nucleus and cytoplasm. Inherited bi-allelic single amino acid variants in the core of the RNA exosome complex have been implicated in causing Mendelian syndromes that affect brain development, collectively termed exosomopathies. The core RNA exosome con...

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Literature Corpus work
8f31c0aa-1d06-5686-857e-665fd66a6d49
DOI
10.64898/2026.07.30.26359120
Open publication

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Biallelic protein truncating <i>EXOSC6</i> variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delayDOI 10.64898/2026.07.30.26359120
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