Matches in SemOpenAlex for { <https://semopenalex.org/work/W2753263062> ?p ?o ?g. }
- W2753263062 abstract "For a subset of genes in our genome a change in gene dosage, by duplication or deletion, causes a phenotypic effect. These dosage-sensitive genes may confer an advantage upon copy number change, but more typically they are associated with disease, including heart disease, cancers and neuropsychiatric disorders. This gene copy number sensitivity creates characteristic evolutionary constraints that can serve as a diagnostic to identify dosage-sensitive genes. Though the link between copy number change and disease is well-established, the mechanism of pathogenicity is usually opaque. We propose that gene expression level may provide a common basis for the pathogenic effects of many copy number variants." @default.
- W2753263062 created "2017-09-15" @default.
- W2753263062 creator A5038985205 @default.
- W2753263062 creator A5056545472 @default.
- W2753263062 date "2017-09-01" @default.
- W2753263062 modified "2023-10-11" @default.
- W2753263062 title "Dosage-sensitive genes in evolution and disease" @default.
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