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    1. Data from 244 and 645 individuals with ABCA4-AR from scanning and exon-sequencing techniques, respectively, from Lille University Hospital were included in the study, as well as data from 800 individuals from Moorfields Eye Hospital London and 271 individuals described by Corradi et al.13 In total, these data included 18 individuals with 2 mild_rp noncomplex variants. Individuals with c.2588G>C without c.5603A>T were mainly reported in the scanning dataset from Lille University Hospital and the Moorfields Eye Hospital London dataset. These datasets likely reported only a few cases with c.5603A>T in cis because the latter variant was long considered benign because of its high frequency. An overview of the data are given in the Table.

      Looked through supplemental files and was unable to locate the patient from the LOVD entry for this variant for more phenotype details.