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Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention.
Kim SY, Kim AR, Kim NK, Lee C, Han JH, Kim MY, Jeon EH, Park WY, Mittal R, Yan D, Liu XZ, Choi BY. Kim SY, et al. Among authors: lee c. J Gene Med. 2016 Nov;18(11-12):353-358. doi: 10.1002/jgm.2935. J Gene Med. 2016. PMID: 27886419 Free PMC article.
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.
Bae JS, Kim NK, Lee C, Kim SC, Lee HR, Song HR, Park KB, Kim HW, Lee SH, Kim HY, Lee SC, Jeong C, Park MS, Yoo WJ, Chung CY, Choi IH, Kim OH, Park WY, Cho TJ. Bae JS, et al. Among authors: lee sh, lee hr, lee sc, lee c. Genet Med. 2016 Jun;18(6):563-9. doi: 10.1038/gim.2015.129. Epub 2015 Sep 24. Genet Med. 2016. PMID: 26402641 Free article.
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