Figure 2
From: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
CNVs analysis and MLPA profile for the three large rearrangements.
Ratios below 0.7 were considered deletions; those above 1.2 were considered to be duplications. (A) Deletion of exons 13 and 14 identified in the EYS gene in the RP-1929 family. (B) Deletion of exon 19 identified in the EYS gene in the RP-1706 family. (C) Gross deletion from the exon 45 to 49 in USH2A (RP-2112).
