Fig. 5
From: Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
Representative findings from the curation of specific instances of PAH functional assays. We assessed the following methods and validation parameters of enzyme activity and protein folding/stability assays: experimental material, cofactor, detection method, controls, replication, and output. *Assays not approved by the Variant Curation Expert Panel (VCEP). †Specific instance of assay cited by the VCEP as evidence for the PS3/BS3 criteria in pilot variant classification. TLC, thin-layer chromatography; HPLC-Fluorescence, high-performance liquid chromatography coupled with fluorescence detection; LC-MS, liquid chromatography coupled with mass spectrometry, see Additional file 2: Tables S8 and S9 for the full primary literature curation results