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- W2051238260 abstract "Key Points ELANE mutations in the first codon and Kozak sequence yield amino-terminally truncated NE lacking pre and pro sequences. The study implies that sometimes NE coding sequence changes are incidental and noncoding ELANE variants are pathogenic." @default.
- W2051238260 created "2016-06-24" @default.
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- W2051238260 date "2014-01-23" @default.
- W2051238260 modified "2023-09-29" @default.
- W2051238260 title "Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms" @default.
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- W2051238260 doi "https://doi.org/10.1182/blood-2013-07-513242" @default.
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