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Title:           A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
Subject:         European Journal of Human Genetics, doi:10.1038/s41431-024-01538-6
Keywords:        
Author:          Zain Awamleh
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     Item: 
      Title: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast’cells
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       Item: 
        Title: Introduction
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       Item: 
        Title: Methods
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         Item: 
          Title: Research Participants
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         Item: 
          Title: DNAm profiling and data processing
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         Item: 
          Title: DNAm signature generation
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         Item: 
          Title: Gene ontology
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         Item: 
          Title: Machine learning classification’models
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         Item: 
          Title: In silico predictions and protein modeling
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         Item: 
          Title: Quantitative phenotypic analysis using PhenoScore
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          Title: DNAm profiling of fibroblast’cells
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       Item: 
        Title: Results
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         Item: 
          Title: Study’cohort
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         Item: 
          Title: KdVS DNAm signature generation
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         Item: 
          Title: Independent validation of KdVS DNAm signature
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         Item: 
          Title: Ontology of DNAm signature’sites
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         Item: 
          Title: Classification’of VUS
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         Item: 
          Title: Classification of individuals with atypical phenotypic presentation
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          Title: DNAm of fibroblast’cells
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        Title: Discussion
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