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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,...
Facioscapulohumeralmuscular dystrophy (FSHD) is linked to copy‐number reduction (N < 10) of the 4q D4Z4 subtelomeric array, in association with DUX4‐permissive haplotypes. This main form is indicated as FSHD1. FSHD‐like phenotypes may also appear in the absence of D4Z4 copy‐number reduction. Variants of the SMCHD1 gene have been reported to associate with D4Z4 hypomethylation in DUX4‐compatible...
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