Figure 2.
Whole genome sequencing (WGS) analysis in Integrative Genomics Viewer (IGV) of GS PRA cases homozygous (A,B) for the c.544G>A (p.Gly182Arg) single nucleotide variant (SNV) in exon 6 of 8 of NECAP endocytosis associated 1 (NECAP1), unaffected sire (C) and dam (D) heterozygous for the variant, and Vizsla control homozygous for the wildtype allele (E).