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Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study.

作者信息

Hwang Soojin, Seo Go Hun, Choi In Hee, Ryue Seung-Woo, Oh Ji Young, Kim Yoo-Mi, Eun Baik-Lin, Byeon Jung Hye, Kang Eugu, Kim Myungshin, Kim Hoon Seok, Lee Soyoung, Kim Han Wool, Kim Dohyung, Khang Rin, Kim Jihye, Moon Dongseok, Jang Seokhui, Song Yongjun, Kim Gu-Hwan, Kim Kyoung Bo, Park Jun Hong, Yang Seo Yeon, Choi Yoo Kyoung, Ji Su Min, Kim Oc-Hee, Park Mi-Hyun, Park Hyun-Young, Lee Beom Hee

机构信息

Department of Paediatrics, Medical Genetics Centre, Asan Medical Centre, University of Ulsan College of Medicine, Seoul, South Korea.

Medical Genetics Division, 3billion Inc., Seoul, South Korea.

出版信息

Clin Transl Med. 2025 Jul;15(7):e70401. doi: 10.1002/ctm2.70401.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f5c/12245977/1a4947b756e3/CTM2-15-e70401-g001.jpg

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