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View article: P688: Impact of gene-disease specific guidelines on variant reclassification in a clinical hereditary cancer setting
P688: Impact of gene-disease specific guidelines on variant reclassification in a clinical hereditary cancer setting Open
View article: Developing a disease-specific annotation protocol for <i>VHL</i> gene curation using Hypothes.is
Developing a disease-specific annotation protocol for <i>VHL</i> gene curation using Hypothes.is Open
Von Hippel–Lindau (VHL) disease is a rare, autosomal dominant disorder that predisposes individuals to developing tumors in many organs. There is significant phenotypic variability and genetic variants encountered within this syndrome, pos…
View article: Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease
Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease Open
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome where individuals are predisposed to tumor development in the brain, adrenal gland, kidney, and other organs. It is caused by pathogenic variants in the VHL tumor suppressor g…