Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them
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DOI: 10.1038/s41598-024-76509-4
Abstract: Recently, a founder Alu insertion in exon 4 of RP1 was detected in Japanese and Korean patients with inherited retinal diseases (IRDs). However, carrier frequency and diagnostic challenges for detecting AluY insertion are not established.… read more here.
Keywords: aluy insertion; diagnostic challenges; insertion; ird group ... See more keywords