#variant classification — Tuesday, August 25, 2026 (1 items)
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RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.
(linkinghub.elsevier.com)
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American Journal of Human Genetics 2026-08-25 | #splicing #pathogenicity #variant classification #transcriptomics #brca1 |