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9 p, 1.4 MB Germline de novo mutation rates on exons versus introns in humans / Rodriguez-Galindo, Miguel (Centre de Regulació Genòmica) ; Casillas Viladerrams, Sònia (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Weghorn, Donate (Universitat Pompeu Fabra) ; Barbadilla Prados, Antonio (Universitat Autònoma de Barcelona. Institut de Biotecnologia i de Biomedicina "Vicent Villar Palasí")
A main assumption of molecular population genetics is that genomic mutation rate does not depend on sequence function. Challenging this assumption, a recent study has found a reduction in the mutation rate in exons compared to introns in somatic cells, ascribed to an enhanced exonic mismatch repair system activity. [...]
2020 - 10.1038/s41467-020-17162-z
Nature communications, Vol. 11 (July 2020) , art. 3304  

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