Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.L47Q
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ELANE

NM_001972.4:p.L47Q

Associated Papers

Novel ELANE mutation causing severe congenital neutropenia with unpredictable fluctuations in neutrophil counts.

Cachia J et al.

Pediatric Blood & Cancer, 2023

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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."