GeneticsHuman MutationPeer-reviewed
Assessing the Gene-Disease Association of 19 Genes with the RASopathies using the ClinGen Gene Curation Framework
Andrew R. Grant, Brandon J. Cushman, Hélène Cavé…·Martin Zenker
The paper curates and scores gene-disease associations for 19 genes related to RASopathies using the ClinGen framework, classifying their associations as definitive, strong, moderate, limited, disputed, or no evidence.
99 citations