This pathway shows the genes known in the 15q11.2 region which can cause a copy number variation syndrome (CNV) if deleted or duplicated (or triplicated). These rare genetic syndromes are called 15q11
Additional file 2: Specific instance of assay literature curation results. Table S1. Summary of CDH1 variant-level curation. Table S2. Summary of CDH1 specific instance-level curation. Table S3. Compa