Loss-of-function variants in the genomes of healthy humans
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 …
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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267307
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