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Reproductive and Cognitive Phenotypes in Carriers of Recessive Pathogenic Variants
3 Articles
3 Articles
Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants
The genetic landscape of human Mendelian diseases is shaped by mutation and selection. Although selection on heterozygotes is well-established in autosomal-dominant disorders, convincing evidence for selection in carriers of pathogenic variants associated with recessive conditions is limited. Here, we studied heterozygous pathogenic variants in 1,929 genes, which cause recessive diseases when bi-allelic, in n = 378,751 unrelated European individ…
An international research team led in France by Inserm, CNRS, CHU Grenoble Alpes, Grenoble Alpes University, the Public Assistance of Hospitals in Paris – APHP and the University of Essen in Germany, has succeeded in identifying two new genes that play a role in the emergence of intellectual development disorders (IDD), in collaboration with Sorbonne University, the CHU of Nantes, the University of Nantes and the University of Rouen-Normandie. S…
Themes: InstitutionalDescription: An international research team led in France by Inserm, CNRS, CHU Grenoble-Alpes, Grenoble-Alpes University and the University of Essen in Germany, has succeeded in identifying two new genes that play a role in the emergence of intellectual development disorders (IDD), in collaboration with the Public Assistance of Hospitals of Paris (AP-HP), Sorbonne University, the CHU of Nantes, the University of Nantes and t…
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