Publications
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Filters: Author is Montgomery, Stephen B and Keyword is Phenotype [Clear All Filters]
A systematic survey of loss-of-function variants in human protein-coding genes. Science. 2012 ;335(6070):823-8.
. Beyond the exome: What's next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023 ;110(8):1229-1248.
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