Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric Disorders.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 34851367.
- Also identified by DOI 10.1001/jamapsychiatry.2021.3211 and PMC identifier 8733829.
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Abstract
This study examines 2 gene-level metrics of variation constraint against protein-truncating variants—probability of loss-of-function intolerance and loss-of-function observed/expected upper bound fraction—and their association with the psychiatric consequences of both recurrent and nonrecurrent gene deletions.
Medical subject headings
- Gene Deletion
- Loss of Function Mutation
- Mental Disorders