Search Phenotypes

Perinatal mortality syndrome, GCK-related

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