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Analysis of the impact of DGAT1 p.M435L and p.K232A variants on pre-mRNA splicing in a full-length gene assay

DGAT1 is playing a major role in fat metabolism and triacylglyceride synthesis. Only two DGAT1 loss-of-function variants altering milk production traits in cattle have been reported to date, namely p.M435L and p.K232A. The p.M435L variant is a rare alteration and has been associated with skipping of...

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Detalles Bibliográficos
Autores principales: Gaiani, Nicolas, Bourgeois-Brunel, Lorraine, Rocha, Dominique, Boulling, Arnaud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10238528/
https://www.ncbi.nlm.nih.gov/pubmed/37268760
http://dx.doi.org/10.1038/s41598-023-36142-z