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Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.
Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006247. doi: 10.1101/mcs.a006247. Print 2022 Dec.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 36376065
Free PMC article.
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