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  Indian J Med Microbiol
 

Figure 2: (a-c) Sequence chromatograms showing the novel PDE6A variant in a homozygous state in the patient (a) and in a heterozygous state in each of the parents (b and c). (d) Line diagram showing the PDE6A protein with positions of the GAF and PDEase domains within

Figure 2: (a-c) Sequence chromatograms showing the novel PDE6A variant in a homozygous state in the patient (a) and in a heterozygous state in each of the parents (b and c). (d) Line diagram showing the PDE6A protein with positions of the GAF and PDEase domains within