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Fig. 4 | Genome Medicine

Fig. 4

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

Fig. 4

Representative findings from the curation of specific instances of MYH7 functional assays. We assessed the following methods and validation parameters of variant-specific knock-in mouse models, ATPase activity, and motility assays: experimental material, 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, see Additional file 2: Tables S6 and S7 for the primary literature curation results

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