Hypomorphic alleles pose challenges in rare disease genomic variant interpretation

Exon skipping associated with an ATP7B intronic variant in a patient with Wilson's disease. (A) Sashimi plot visualization of aligned RNA sequencing data from proband liver tissue at ATP7B exons 14‐13‐12. The red track shows traditional RNA‐seq data; the blue track shows RNA‐seq enriched with e...

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