Floriot et al. (2026): "Genetic analysis identified a nonsense variant in the epidermal growth factor receptor (EGFR) gene, XP_002696936:p.Val876Ter, as likely responsible ... ."
OMIA ID:3037Inheritance: 5Characterised: YesYear: 2026
Pollott et al. (2022): "Using whole genome sequencing of only three cases and six carriers, the site of a novel variant causing perinatal mortality in Irish moiled calves was located. Four methods were used to interrogate the variant call format (VCF) data file of these nine animals, they are genotype criteria (GCR), autozygosity-by-difference (ABD), variant prediction scoring, and registered SNP information. From more than nine million varian...
OMIA ID:2579Inheritance: Pollott et al. (2022): "An initial analysis was undertaken which suggested th...Characterised: YesYear: 2022
