Associated Papers
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
Wortmann SB et al.
Journal of Inherited Metabolic Disease, 2017
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.
Long T et al.
Nature Genetics, 2017
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