Article

A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing mutation in the <i>GNPAT</i> gene

2024-06-16

Abstract excerpt

<h4>Background</h4> 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 their low genetic variability, while their large population sizes provide easy access to case and control individuals, as well as massive amounts of...

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Literature Corpus work: bca365d5-13c9-5a70-b199-df2b86b37398
DOI: 10.1101/2024.06.13.598642

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