Article

Splicing impact of deep exonic missense variants in <i>CAPN3</i> explored systematically by minigene functional assay

2020-03-26

Abstract excerpt

<h4>ABSTRACT</h4> Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. In order to explore an often overlooked splicing effect of missense variants, we developed the functional assay (“minigene”) for the majority of exons of CAPN3 , the gene responsible for Limb Girdle Muscular Dystrophy (LGMD). By systematically screening 21 missense variants distri...

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Literature Corpus work: 426d70fc-9066-56dd-9e1b-6b9aed571640
DOI: 10.1101/2020.03.26.009332

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