Review paper
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay
Abstract
Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. 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. By systematically screening 21 missense variants distributed along the gene, we found that eight clinically relevant...
Paper Details
Title
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay
Published Date
Jul 27, 2020
Journal
Volume
41
Issue
10
Pages
1797 - 1810
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