Journal article

A Novel von Hippel Lindau Gene Intronic Variant and Its Reclassification from VUS to Pathogenic: the Impact on a Large Family

A Sexton, L Rawlings, G McKavanagh, K Simons, I Winship

Journal of Genetic Counseling | SPRINGER | Published : 2015

DOI: 10.1007/s10897-015-9875-z

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Keywords

Male
Vhl Gene
Von Hippel-Lindau Tumor Suppressor Protein
Splicing Mutation
Female
Life Sciences & Biomedicine
Penetrance
Von Hippel Lindau Syndrome
Middle Aged
Social Sciences
Genetic Testing
Disease
Science & Technology
Pedigree
Uncertainty
Social Sciences, Biomedical
Dna Mutational Analysis
Von Hippel-Lindau Disease
Health Care Sciences & Services
Biomedical Social Sciences
Genetic Counseling
Hemangioblastomas
Distress
Genotype-Phenotype Correlations
Mutation
Tumor-Suppressor Gene
Health Policy & Services
Adult
Risk Perception
Family
Mutations
Central-Nervous-System
Aged
Genetics & Heredity
Vus
Humans