Publications:

Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.

Human Mutation

Chiorean, Andreea A; Farncombe, Kirsten M KM; Delong, Sean S; Andric, Veronica V; Ansar, Safa S; Chan, Clarissa C; Clark, Kaitlin K; Danos, Arpad M AM; Gao, Yizhuo Y; Giles, Rachel H RH; Goldenberg, Anna A; Jani, Payal P; Krysiak, Kilannin K; Kujan, Lynzey L; Macpherson, Samantha S; Maher, Eamonn R ER; McCoy, Liam G LG; Salama, Yasser Y; Saliba, Jason J; Sheta, Lana L; Griffith, Malachi M; Griffith, Obi L OL; Erdman, Lauren L; Ramani, Arun A; Kim, Raymond H RH

Publication Date: 2022-09

Variant appearance in text: HP: 488T>G; Leu163Arg

PubMed Link: 35475554

Variant Present in the following documents:

• HUMU-43-1268-s002.xlsx, sheet 1

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