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Growth and respiratory lethal syndrome

Eusebi et al. (2022): "Whole genome resequencing of three affected calves and three putative non-carrier parents identified a novel missense variant (c.149G>A|p.Cys50Tyr) in exon 2 of the endothelin 2 (EDN2) gene. Bioinformatic analyses of p.Cys50Tyr effects predicted them to be damaging for both the structure and the function of the edn2 protein, and to create a new site of splicing that may also affect the pattern of pre-mRNA splicing and...

OMIA ID: 2560Inheritance: Eusebi et al. (2022) conducted a detailed pedigree analysis which suggested a...Characterised: YesYear: 2022