A framework for the interpretation of de novo mutation in human disease

2014 Nature Genetics 1,091 citations

Keywords

BiologyGeneticsLoss functionGeneLocus (genetics)MutationLocus heterogeneityPhenotypeGenetic heterogeneity

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Year
2014
Type
article
Volume
46
Issue
9
Pages
944-950
Citations
1091
Access
Closed

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Kaitlin E. Samocha, Elise Robinson, Stephan Sanders et al. (2014). A framework for the interpretation of de novo mutation in human disease. Nature Genetics , 46 (9) , 944-950. https://doi.org/10.1038/ng.3050

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DOI
10.1038/ng.3050