ENAGenomicsThe First Hospital of Jilin Universityhttps://www.ebi.ac.uk/ena/browser/view/PRJNA1005672In order to identified the causative variant that responsible for a clinical diagnosed Alstrom syndrome, we performed multiple methods, including whole exome sequencing, whole genome sequencing, real-time qPCR, and Sanger sequencing on the patient.ENAfalseWhole exome and genome sequencing of a patient affected with Alstrom syndrome2024-07-242024-05-11PRJNA1005672