Overview of verified known pathogenic mutations and additional detected variants in the validation cohort (n = 41).
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下载链接：
https://figshare.com/articles/dataset/_Overview_of_verified_known_pathogenic_mutations_and_additional_detected_variants_in_the_validation_cohort_n_41_/1496741
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资源简介：
All variants are reported as mutations by Cartagenia Bench Lab NGS software (Version 3.1.2).
创建时间：
2015-07-29
