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A, Pedigree of F1, in which NR2E3 mutation p.Gly56Arg was found. WT = wild type; M = mutation p.Gly56Arg. B, Haplotypes of critical recombinants of F1 used to narrow candidate region. C, Sequence electropherogram of heterozygous substitution c.166G→A (p.Gly56Arg) versus wild type. D and E, Pedigrees of F2 and F3, respectively.
