Article

Functional analyses of two novel <i>LRRK2</i> pathogenic variants in familial Parkinson’s disease

2021-12-03

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Pathogenic variants in the LRRK2 gene are a common monogenic cause of Parkinson’s disease. However, only seven variants have been confirmed to be pathogenic. <h4>Objectives</h4> We identified two novel LRRK2 variants (H230R and A1440P) and performed functional testing. <h4>Methods</h4> We transiently expressed wildtype, the two new variants, or two known pathogenic mut...

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Literature Corpus work: 99f7d0ca-66c5-5aeb-9fd7-8be60fc94d65
DOI: 10.1101/2021.12.03.470891

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