A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing variant in the GNPAT gene
Abstract Background Genetic defects that occur naturally in livestock species provide valuable models for investigating the molecular mechanisms underlying rare human diseases. Livestock breeds are subject to the regular emergence of recessive genetic defects due to genetic drift and recent inbreedi...
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| Główni autorzy: | , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Alemão |
| Wydane: |
BMC
2025-05-01
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| Seria: | Genetics Selection Evolution |
| Dostęp online: | https://doi.org/10.1186/s12711-025-00969-z |
| Etykiety: |
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