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Fig. 4 | Acta Veterinaria Scandinavica

Fig. 4

From: A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

Fig. 4

Schematic diagram of the COL2A1 gene showing the pathogenic variant causing BDS in the affected calf. a Location of the bovine COL2A1 gene and causal variant indicated by the arrow on chromosome 5 of the ARS-UCD1.2 bovine genome assembly. b Schematic illustration of the bovine COL2A1 gene with its 54 annotated exons. c Integrative Genomics Viewer screenshot in the region of the heterozygous 3513‐bp deletion in combination affecting exons 31 to 40 of the COL2A1 gene. Note the drop in coverage and the truncated read‐alignments at the deletion breakpoints. Sequence reads coloured in dark red indicate the deletion as read‐pairs that map farther apart on the reference genome than the average insert size of the sequencing library

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