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Article

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

1 Nov 2022

Abstract excerpt

Gene expression is tightly regulated, with many genes exhibiting cell-specific silencing when their protein product would disrupt normal cellular function1. This silencing is largely controlled by non-coding elements, and their disruption might cause human disease2. We performed gene-agnostic screening of the non-coding regions to discover new molecular causes of congenital hyperinsulinism. This identified 14...

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PMID: 36333503
DOI: 10.1038/s41588-022-01204-x

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