Article

A 63-bp insertion in exon 2 of the porcine <i>KIF21A</i> gene is associated with arthrogryposis multiplex congenita

2020-04-10

Abstract excerpt

<h4>Summary</h4> Arthrogryposis multiplex congenita (AMC) is a recessively inherited fatal disease detected almost 20 years ago in the Swiss Large White pig population. A diagnostic marker test enabled the identification of carrier animals, but the underlying causal mutation remains unknown. To identify the mutation underlying AMC, we collected whole-genome genotyping and sequencing data for 11 affected piglets a...

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Literature Corpus work: d88827de-a96a-518c-85f9-3a055719582d
DOI: 10.1101/2020.04.09.033761

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