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
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Weighted
Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A.
Gkaliagkousi E et al.
European Journal of Clinical Investigation, 2009
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