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Choroideremia is a monogenic X‐linked recessive chorioretinal disease linked to pathogenic variants in the CHM gene. These variants are commonly base‐pair changes, frameshifts, or large deletions. However, a few rare or unusual events comprising large duplications, a retrotransposon insertion, a pseudo‐exon activation, and two c‐98 promoter substitutions have also been described. Following an exhaustive...
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