Loss-of-function variants in the genomes of healthy humans

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ID: 267307
2010
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Abstract
Genetic variants predicted to seriously disrupt the function of human protein-coding genes-so-called loss-of-function (LOF) variants-have traditionally been viewed in the context of severe Mendelian disease. However, recent large-scale sequencing and genotyping projects have revealed a surprisingly …
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dg2010humanloss-of-function Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors MacArthur DG;Tyler-Smith C;;
Journal Human molecular genetics
Year 2010
DOI
DOI not found
URL
http://www.ncbi.nlm.nih.gov/pubmed/20805107
Keywords
National Center for Biotechnology Information NCBI NLM MEDLINE review humans pubmed abstract nih national institutes of health national library of medicine research support non-u.s. gov't genome human / genetics* pmid:20805107 pmc2953739 doi:10.1093/hmg/ddq365 daniel g macarthur chris tyler-smith genetic variation / genetics*

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