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Hepatocellular fibrinogen storage disease

Jacinto et al. (2023): "A trio whole-genome sequencing approach [of an affected 5 month old Wagyu calf and its parents] identified a deleterious homozygous missense variant in DGKG (p.Thr721Ile). The allele frequency in 209 genotyped Wagyu was 7.2%."

OMIA ID: 2582Inheritance: 5Characterised: YesYear: 2023