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J Clin Invest 132(13):115 Miyasaki JM, Shannon K, Voon V, Ravina B, Kleiner-Fisman G, Anderson K, Shulman LM, Gronseth G, Weiner WJ (2006) Practice parameter: evaluation and treatment of depression, psychosis, and dementia in Parkinson disease (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology

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Long-term outcome of patients with urea cycle disorders and the question of neonatal screening

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Obtaining a set of non-disease-associated variants was more problematic, as the ClinVar database contained no missense variants annotated as benign and only one annotated as likely benign. As a proxy set of non-disease-associated variants, we therefore selected all CBS missense variants deposited in gnomAD [1, 2] which (i) had no annotated disease association or experimental evidence of functional impact and (ii) have been observed in at least two individuals (Additional file 1: Table S1)

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