Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing
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Abnormal RNA splicing is an underrecognized driver of pathogenicity in germline TP53 - the cause of Li-Fraumeni syndrome (LFS). We re-evaluated exonic single-nucleotide variants (SNVs) that yield missense or synonymous changes for spliceogenic effects by integ... ...
