Associated Papers
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.
Sangermano R et al.
Cold Spring Harbor Molecular Case Studies, 2022
36376065 (PubMed )
Supplement: supp_mcs.a006247_Supplemental_Tables.xlsx › Supplemental_Table_S1
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
Ellingford JM et al.
Ophthalmology, 2016
26872967 (PubMed )
Supplement: mmc8.pdf
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