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Validation of NGS for variant/mutation detection on known CMD-positives samples.

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Figshare2015-12-02 更新2026-04-29 收录
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https://figshare.com/articles/dataset/_Validation_of_NGS_for_variant_mutation_detection_on_known_CMD_positives_samples_/179786
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aThis mutation has been reported in individuals with MEB disease; +, detected; −, Not detected; (−) Mutation and/or variant not detected because the bioinformatics algorithm for NGS data is set to detect +/−20 bases from exon/intron boundaries.
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2015-12-02
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