Presentation Information
[OE2-1]Pathogenic variants in ADTKD-MUC1 can be detected using short read sequencing data
○China Nagano1, Naoya Morisada2, Yuta Inoki1, Yu Tanaka1, Chika Ueda1, Hideaki Kitakado1, Nana Sakakibara1, Tomoko Horinouchi1, Tomohiko Yamamura1, Shingo Ishimori1, Kandai Nozu1 (1.Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan, 2.Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan)