A germline de novo variant in NUMB associated with a double‐outlet right ventricle in Chianina cattle.

This identified two heterozygous private protein-changing variants present exclusively in the genome of the affected calf and absent in both parental genomes as well as in 5365 controls (Table S1). Sanger sequencing confirmed the presence of the heterozygous I NUMB i variant in the affected calf and its sire, which clearly carried the mutant allele at a low level in comparison with the wild type allele, representing a germinal mosaic (Figure S1). A germline de novo variant in NUMB associated with a double-outlet right ventricle in Chianina cattle. [Extracted from the article]