Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study
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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
创建时间:
2024-01-02



