GeneticsPLoS ONEPeer-reviewed
Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes in a 3,552 Japanese whole-genome sequence dataset (3.5KJPNv2)
Hideki Tokunaga, Keita Iida, Atsushi Hozawa…·Jun Yasuda
The paper identifies seven new potentially pathogenic BRCA1/BRCA2 variants in a Japanese population using computational scores and cohort analysis.
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