GeneticsbioRxivPreprint
A bovine model of rhizomelic chondrodysplasia punctata caused by a deep intronic splicing mutation in the GNPAT gene
Arnaud Boulling, Julien Corbeau, Cécile Grohs…·Aurélien Capitan
The paper identifies a deep intronic splicing mutation in the GNPAT gene in cattle causing rhizomelic chondrodysplasia punctata, and demonstrates its phenotypic effects through genetic and functional analyses.
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