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Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study

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NIAID Data Ecosystem2026-05-01 收录
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Library preparation, DNA sequencing, variant interpretation and statistical analysis are detailed in supplementary material. Supplemental figures Figure S1: Schematic representation of the study design Supplemental Tables : Table S1: Patient inclusion and exclusion criteria Table S2: Variants never reported in literature Table S3: Phenotype and CES results of the cohort Table S4: Incidental findings Table S5: Somatic mutations Table S6: Designs clinical exome
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2024-01-02
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