Article

Identification of a novel missense variant in <i>SPDL1</i> associated with idiopathic pulmonary fibrosis

2020-06-29

Abstract excerpt

Idiopathic pulmonary fibrosis (IPF) is a fatal disorder characterised by progressive, destructive lung scarring. Despite significant progress, the genetic determinants of this disease remain incompletely defined. Using next generation sequencing data from 752 individuals with sporadic IPF and 119,055 controls, we performed both variant- and gene-level analyses to identify novel IPF genetic risk factors. Our varian...

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Literature Corpus work: 5fdaf45b-3203-5413-a118-fc926de47bb9
DOI: 10.1101/2020.06.29.178079

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