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A novel missense mutation of RPGR identified from retinitis pigmentosa affects splicing of the ORF15 region and causes loss of transcript heterogeneity.
Liu YS, Pan JQ, Wan JF, Ren CY, Xu ZH, Pan XB, Gao RN, Liu SQ, Zhang JL, Yao QH, Wang JH, Li EM, Rao JH, Hou P, Chen JH. Liu YS, et al. Among authors: ren cy. Biochem Biophys Res Commun. 2020 Oct 15;531(2):172-179. doi: 10.1016/j.bbrc.2020.06.109. Epub 2020 Aug 9. Biochem Biophys Res Commun. 2020. PMID: 32788070
83 results