Journal article
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
- Abstract:
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Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. Through replication genotyping and imputation we found that a predicted protein-truncating variant (rs36095412, p.R179X, genotyped in 11,148 ulcerative colitis patients ...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Version of record, pdf, 408.7KB)
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- Publisher copy:
- 10.1038/ncomms12342
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Authors
Bibliographic Details
- Publisher:
- Springer Nature Publisher's website
- Journal:
- Nature Communications Journal website
- Volume:
- 7
- Article number:
- 12342
- Publication date:
- 2016-08-09
- Acceptance date:
- 2016-06-24
- DOI:
- ISSN:
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2041-1723
- Pmid:
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27503255
- Source identifiers:
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638227
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:638227
- UUID:
-
uuid:8af0bfd0-c489-4ab8-be77-1a788f83e81b
- Local pid:
- pubs:638227
- Deposit date:
- 2017-08-17
Terms of use
- Copyright holder:
- Rivas et al
- Copyright date:
- 2016
- Notes:
- This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
- Licence:
- CC Attribution (CC BY)
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