Articles with "eloc" as a keyword



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Elongin C (ELOC/TCEB1)-associated von Hippel–Lindau disease

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Published in 2022 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddac066

Abstract: Abstract Around 95% of patients with clinical features that meet the diagnostic criteria for von Hippel–Lindau disease (VHL) have a detectable inactivating germline variant in VHL. The VHL protein (pVHL) functions as part of the… read more here.

Keywords: von hippel; disease; eloc; hippel lindau ... See more keywords