Validation of BRCAplus deleterious variant detection on previously characterized samples.
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https://figshare.com/articles/dataset/_Validation_of_BRCAplus_deleterious_variant_detection_on_previously_characterized_samples_/1028317
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资源简介：
Table illustrates representative calls from 250 accuracy samples. All mutations confirmed by Sanger or MLPA.
HET, heterozygous; *, Stop codon; fs, frame-shift; del, deletion; dup, insertion; CNV, copy number variation.
创建时间：
2014-05-15
