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Konain Fatima Bhatti on Muck Rack

Konain Fatima Bhatti

As seen in: Genome Biology, BioRxiv
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Articles

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

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By Konain Fatima Bhatti, Dapeng Wang, Hernan P Fainberg
| BioRxiv
Abstract Background 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 the pathogenesis of PF.
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