Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric Disorders

缺失功能不耐受基因与5种精神疾病风险

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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.

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