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(A) Sanger sequencing chromatograms illustrate sequences of a homozygous wildtype dog, a heterozygous carrier and a homozygous affected dog. The variant replaced the essential thymine at position +2 of the 5’-splice site with a guanine. (B) Pedigree of the Giant Spitz litter. Genotypes at the splice site variant show the expected co-segregation with the phenotype.
