Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
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Nature. 2020 Oct;586(7831):749-756. doi: 10.1038/s41586-020-2853-0. Epub 2020 Oct 21.
Nature. 2020.
PMID: 33087929
Free PMC article.
In addition to replicating established associations, we found novel LOF variants with large effects on disease traits, including PIEZO1 on varicose veins, COL6A1 on corneal resistance, MEPE on bone density, and IQGAP2 and GMPR on blood cell traits. ...
In addition to replicating established associations, we found novel LOF variants with large effects on disease traits, including PIEZO1 on v …