Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.P205fs
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ELANE

NM_001972.4:p.P205fs

Associated Papers

Characterization of mutant neutrophil elastase in severe congenital neutropenia.

Li FQ et al.

The Journal of Biological Chemistry, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."