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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Bibliographic Details

Published in:	Genetics Selection Evolution
Main Authors:	Arnaud Boulling, Julien Corbeau, Cécile Grohs, Anne Barbat, Jérémy Mortier, Sébastien Taussat, Vincent Plassard, Hélène Leclerc, Sébastien Fritz, Cyril Leymarie, Lorraine Bourgeois-Brunel, Alain Ducos, Raphaël Guatteo, Didier Boichard, Mekki Boussaha, Aurélien Capitan
Format:	Article
Language:	German
Published:	BMC 2025-05-01
Online Access:	https://doi.org/10.1186/s12711-025-00969-z