MOESM2 of Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
Year: 2019
Type: dataset
Abstract: 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. Comparison of CDH1 functional assay findings to variant evidence in ClinVar. Table S4. Summary of Hearing Loss variant-level curation. Table S5. Summary of Hearing Loss specific instance-level curation. Table S6. Summary of Inherited Cardiomyopathy (MYH7) variant-level curation. Table S7. Summary of Inherited Cardiomyopathy (MYH7) specific instance-level curation. Table S8. Summary of PAH variant-level curation. Table S9. Summary of PAH specific instance-level curation. Table S10. Summary of PTEN variant-level curation. Table S11. Summary of PTEN specific instance-level curation. Table S12. Summary of RASopathy variant-level curation. Table S13. Summary of RASopathy specific instance-level curation.
Source: Figshare
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4394427236