Article

Burden of rare pathogenic variants suggests disrupted cytoskeletal organisation in the pathogenesis of pulmonary fibrosis

2024-06-11

Abstract excerpt

<h4>Background</h4> Rare genetic variants contribute to pulmonary fibrosis (PF) risk and outcome, with known variants highlighting the importance of impaired telomere maintenance and surfactant biology. However, much of the disrupted genetic architecture of PF remains unexplained. This study aimed to identify genes with rare pathogenic coding variants that represented a burden at the exon level associated with th...

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Literature Corpus work: cb6f9966-05b8-56a5-aa17-59452031686a
DOI: 10.1101/2024.06.10.598229

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