Phenotypic Findings Associated with Variation in Elastin
Anne E. Justice, Melissa Kelly, Gary A. Bellus, Joshua D Green, Raza Zaidi, Taylor Kerrins, Navya Shilpa Josyula, Teresa Romeo Luperchio, Beth A. Kozel, Marc S. Williams
The paper investigates the phenotypic effects of ELN gene variants using exome data and phenotyping, finding associations with connective tissue disorders beyond known conditions.
Human Genetics and Genomics Advances · Nov 27, 2024Peer-reviewedGenetic & Genomic Medicine