Article

Loss-of-function in <i>IRF2BPL</i> is associated with neurological phenotypes

2018-05-15

Abstract excerpt

The Interferon Regulatory Factor 2 Binding Protein Like ( IRF2BPL ) gene encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Here we describe seven individuals affected with neurological symptoms who carry damaging heterozygous variants in IRF2BPL. Five cases carrying nonsen...

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Literature Corpus work: 2b488bb3-9290-5efd-ba69-7e0ba1b04791
DOI: 10.1101/322495

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