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