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Communications Biology (1)

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Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia

In silico and functional analysis of ENG 5’UTR variants altering upstream ORFs contributes to the molecular diagnosis of Hereditary Hemorrhagic Telangiectasia and clears the way for the interpretation of this kind of variants in human diseases.

Carole Proust
Clémence Deiber
Omar Soukarieh
ResearchOpen Access18 Jul 2025
Communications Biology

Volume: 8, P: 1-8

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Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic Telangiectasia

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