Article

Compound heterozygosity of EXOSC2 ‘missense’ variants causes a bi-allelic decrease in protein expression through novel unexpected pathomechanisms

2026-03-13

Abstract excerpt

<title>Abstract</title> <italic>EXOSC2</italic> encodes one of the 11 components of the RNA exosome complex degrading various types of RNA. Pathogenic variants of some EXOSC genes cause genetic disorders with similar phenotypes, including intellectual disability (ID), microcephaly, and pontocerebellar hypoplasia. However, little is known regarding <italic>EXOSC2</italic> . We report detailed analyses of c...

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Literature Corpus work: 7be6ed8c-989a-5725-aa3b-a5f3a24c03d9
DOI: 10.21203/rs.3.rs-9039053/v1

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