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Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease

Abstract Background De novo mutations (DNMs) are variants that occur anew in the offspring of noncarrier parents. They are not inherited from either parent but rather result from endogenous mutational processes involving errors of DNA repair/replication. These spontaneous errors play a significant r...

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Bibliografische gegevens
Hoofdauteurs: Mónica Lopes-Marques, Matthew Mort, João Carneiro, António Azevedo, Andreia P. Amaro, David N. Cooper, Luísa Azevedo
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMC 2024-02-01
Reeks:Human Genomics
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Online toegang:https://doi.org/10.1186/s40246-024-00587-8
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