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Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and <span aria-describedby="tippy-31">Literature Review

2023-12-18

Abstract excerpt

<h4>Background: </h4> Although cerebral aneurysm (CA) is a defining complication of COL4A1/2-related vasculopathy, the specific factors influencing its onset remain uncertain. This study aimed to identify and analyze these factors. <h4>Methods:</h4> We described a family presenting with a novel variant in the COL4A1 gene complicated with CA. Concurrently, an exhaustive review of previously documented patients with...

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Literature Corpus work: f74e7898-35c1-5dec-a7aa-e8fa799d0ff1
DOI: 10.20944/preprints202312.1336.v1

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