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Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.

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Bibliographic Details
Title: Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.
Authors: Bennett, Jasmin J.1 (AUTHOR), Saint-Martin, Cécile2 (AUTHOR), Neumann, Bianca3 (AUTHOR), Männistö, Jonna M. E.1,4 (AUTHOR), Houghton, Jayne A. L.1,5 (AUTHOR), Empting, Susann6 (AUTHOR), Johnson, Matthew B.1 (AUTHOR), Laver, Thomas W.1 (AUTHOR), Locke, Jonathan M.1 (AUTHOR), Spurrier, Benjamin1 (AUTHOR), Wakeling, Matthew N.1 (AUTHOR), Banerjee, Indraneel7 (AUTHOR), Dastamani, Antonia8 (AUTHOR), Demirbilek, Hüseyin9 (AUTHOR), Mitchell, John10 (AUTHOR), Stange, Markus11 (AUTHOR), International Congenital Hyperinsulinism Consortium (AUTHOR), Abi Warde, Marie-Thérèse (AUTHOR), Amrita, Mehta (AUTHOR), Aravena, Romy (AUTHOR)
Source: Genome Medicine. 3/3/2025, Vol. 17 Issue 1, p1-11. 11p.
Database: Academic Search Ultimate
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Description
ISSN:1756994X
DOI:10.1186/s13073-025-01440-w