Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewed
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Eleanor C Broeren, Vanessa N. Gitau, Alicia B. Byrne…·Alison J. Coffey
The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.
1 citation