Associated Papers
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Mougel G et al.
Journal of Medical Genetics, 2024
Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease.
Albanyan S et al.
European Journal of Medical Genetics, 2019
Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
Oliveira JL et al.
American Journal of Hematology, 2018
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