Article

<i>Alu</i> insertion-mediated dsRNA structure formation with pre-existing <i>Alu</i> elements as a novel disease-causing mechanism

2020-01-31

Abstract excerpt

We previously identified a homozygous Alu insertion variant ( Alu _Ins) in the 3’-UTR of the SPINK1 gene as the cause of a novel pediatric disease. Although we established that Alu _Ins leads to the complete loss of SPINK1 mRNA expression, the precise mechanisms remained elusive. Here we aimed to elucidate these mechanisms through a hypothesis-driven approach. Initially, we speculated that Alu _Ins could ind...

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Literature Corpus work: 13035b27-9659-5d25-afbb-2b268a1168e6
DOI: 10.1101/2020.01.30.926790

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