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
DHPLC-based germline mutation screening in the analysis of the VHL tumor suppressor gene: usefulness and limitations.
Klein B et al.
Human Genetics, 2001
Germ-line mutation analysis in patients with von Hippel-Lindau disease in Japan: an extended study of 77 families.
Yoshida M et al.
Japanese Journal of Cancer Research : Gann, 2000
Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.
Richards FM et al.
Human Molecular Genetics, 1995
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