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Article

Noncoding Variants in Intron 2 of HK1 Associated With Hyperinsulinism With Variable Clinical Phenotype.

The Journal of clinical endocrinology and metabolism - 15 Jul 2026

Boodhansingh Kara E, Lord Katherine, Sigal Winnie, Benjet Joshua E, Chen Pan, Juliana Christine A, Mitteer Lauren, Bhatti Tricia, Stanley Charles A, De Leon Diva D, Ganguly Arupa

Abstract excerpt

CONTEXT: Noncoding variants in hexokinase 1 (HK1) were first associated with congenital hyperinsulinism (HI) in a large family with diazoxide-responsive HI in 2008. Since then, additional cases have been reported in the literature with noncoding variants in HK1 associated with variable HI phenotypes. METHODS: We sequenced a 350 bp region in intron 2 of HK1 in 281 individuals with genetics-negative HI to identify...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41810512
DOI: 10.1210/clinem/dgag108
PMCID: PMC13368363

Genes

HK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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