Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.P42P
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ELANE

NM_001972.4:p.P42P

Associated Papers

Two paternal mosaicism of mutation in ELANE causing severe congenital neutropenia exhibit normal neutrophil morphology and ROS production.

Liu Q et al.

Clinical Immunology (orlando, Fla.), 2019

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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."