A systematic survey of loss-of-function variants in human protein-coding genes
ContributorsMacArthur, Daniel G; Montgomery, Stephen; Dermitzakis, Emmanouil
Published inScience, vol. 335, no. 6070, p. 823-828
Publication date2012
Abstract
Keywords
- Disease/genetics
- Gene Expression
- Gene Frequency
- Genetic Variation
- Genome, Human
- Humans
- Phenotype
- Polymorphism, Single Nucleotide
- Proteins/genetics
- Selection, Genetic
Research group
Funding
- Autre - Jeantet
Citation (ISO format)
MACARTHUR, Daniel G, MONTGOMERY, Stephen, DERMITZAKIS, Emmanouil. A systematic survey of loss-of-function variants in human protein-coding genes. In: Science, 2012, vol. 335, n° 6070, p. 823–828. doi: 10.1126/science.1215040
Main files (1)
Article (Published version)

Identifiers
- PID : unige:32178
- DOI : 10.1126/science.1215040
- PMID : 22344438
ISSN of the journal0036-8075