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Fig. 6 | Genome Medicine

Fig. 6

From: Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

Fig. 6

Representative findings from the curation of specific instances of PTEN functional assays. We assessed the following methods and validation parameters of phosphatase activity, PTEN level, pAKT level, protein localization, cell proliferation, and cell migration assays: experimental material, controls, replication, and output. Specific instance of assay cited by the Variant Curation Expert Panel (VCEP) as evidence for the PS3/BS3 criteria in pilot variant classification, see Additional file 2: Tables S10 and S11 for the full primary literature curation results

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