Related references
Note: Only part of the references are listed.
Article
Genetics & Heredity
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
Ahmad N. Abou Tayoun et al.
HUMAN MUTATION (2018)
Article
Multidisciplinary Sciences
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Daniel G. MacArthur et al.
SCIENCE (2012)
Article
Biochemistry & Molecular Biology
Loss-of-function variants in the genomes of healthy humans
Daniel G. MacArthur et al.
HUMAN MOLECULAR GENETICS (2010)