Article

Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm

2023-02-02

Abstract excerpt

<h4>ABSTRACT</h4> Intracranial aneurysm (IA) is a common cerebrovascular abnormality characterized by localized dilation and wall thinning in intracranial arteries, which can rupture and lead to fatal subarachnoid hemorrhage. Although the pathophysiology of IA remains largely unknown, increasing evidence suggests that genetic susceptibility plays a predominant role. Here, we combined whole exome sequencing and ide...

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Literature Corpus work: abfa3617-7124-5ed3-afa1-2528f3830021
DOI: 10.1101/2023.01.31.23285168

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