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S. Seminara

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Open access Aug 2026

EP1343 - ECE_3558 - Rare 5′-UTR variants creating new upstream open reading frames provide a potential novel genetic mechanism in congenital hypogonadotropic hypogonadism

Patients with CHH are enriched for rare 5′-UTR variants creating new uORFs in autosomal dominant genes compared to controls, underscoring the emerging role of non-coding variants in the genetic background of CHH.

Georgios Markantes, Jack M. Fu, Harrison Brand et al. · 0 citations

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