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Title:           Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
Subject:         European Journal of Human Genetics, doi:10.1038/s41431-021-00858-1
Keywords:        
Author:          Judy Savige
Creator:         Springer
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        Title: Abstract
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        Title: Introduction
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       Item: 
        Title: Broadening the phenotype
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       Item: 
        Title: Genetic testing of the COL4A3–nobreakCOL4A5 genes
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       Item: 
        Title: Definition of pathogenicity
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       Item: 
        Title: Modification of the ACMG/AMP criteria for the COL4A3–nobreakCOL4A5 genes and rationale
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          Title: Types of pathogenic variants
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          Title: Functional studies
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          Title: Critical and well-established domains and mutational hotspots
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          Title: Hypomorphic variants
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        Title: Conclusions
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          Title: Compliance with ethical standards
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