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Specifications
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 18 |
| Mutation | c.1033_1044del |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | EAOD |
General information
Clinical features
Additional information
References
Pubmed ID: 35385474
Year published: 2022
Omia ID: 2550
Omia variant ID: