Associated Papers
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Tilemis FN et al.
Genes, 2023
Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.
Tilemis FN et al.
Molecular Syndromology, 2023
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Estrada-Cuzcano A et al.
Human Mutation, 2020
Select a paper to view details