Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
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Author / Creator
FinnGen Consortium , Dhindsa, Ryan S. , Mattsson, Johan , Nag, Abhishek , Wang, Quanli , Wain, Louise V. , Allen, Richard , Wigmore, Eleanor M. , Ibanez, Kristina , Vitsios, Dimitrios , Deevi, Sri V. V. , Wasilewski, Sebastian , Karlsson, Maria , Lassi, Glenda , Olsson, Henric , Muthas, Daniel , Monkley, Susan , Mackay, Alex , Murray, Lynne , Young, Simon , Haefliger, Carolina , Maher, Toby M. , Belvisi, Maria G. , Jenkins, Gisli , Molyneaux, Philip L. , Platt, Adam and Petrovski, Slavé
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
Idiopathic pulmonary fibrosis (IPF) is a fatal disorder characterised by progressive, destructive lung scarring. Despite substantial progress, the genetic determinants of this disease remain incompletely defined. Using whole genome and whole exome sequencing data from 752 individuals with sporadic IPF and 119,055 UK Biobank controls, we performed a...
Alternative Titles
Full title
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis
Authors, Artists and Contributors
Author / Creator
Dhindsa, Ryan S.
Mattsson, Johan
Nag, Abhishek
Wang, Quanli
Wain, Louise V.
Allen, Richard
Wigmore, Eleanor M.
Ibanez, Kristina
Vitsios, Dimitrios
Deevi, Sri V. V.
Wasilewski, Sebastian
Karlsson, Maria
Lassi, Glenda
Olsson, Henric
Muthas, Daniel
Monkley, Susan
Mackay, Alex
Murray, Lynne
Young, Simon
Haefliger, Carolina
Maher, Toby M.
Belvisi, Maria G.
Jenkins, Gisli
Molyneaux, Philip L.
Platt, Adam
Petrovski, Slavé
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_5ca8ca31c47044f2a6b834855f2cbf1a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_5ca8ca31c47044f2a6b834855f2cbf1a
Other Identifiers
ISSN
2399-3642
E-ISSN
2399-3642
DOI
10.1038/s42003-021-01910-y