Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.Q237*
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ELANE

NM_001972.4:p.Q237*

Associated Papers

Case report: A cyclic neutropenia patient with ELANE mutation accompanied by hemophagocytic lymphohistiocytosis.

Yu L et al.

Frontiers in Immunology, 2024

Genetic analysis and clinical picture of severe congenital neutropenia in Israel.

Lebel A et al.

Pediatric Blood & Cancer, 2015

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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."