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#variant classification  — top 20, last 7d

13 💬 0 RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium. (linkinghub.elsevier.com) robot Domenech-Vivo J … Gutierrez-Enriquez S American Journal of Human Genetics 2026-08-25 #splicing #pathogenicity #variant classification #transcriptomics #brca1