Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.V72E
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ELANE

NM_001972.4:p.V72E

Associated Papers

Severe Congenital Neutropenia in a Newborn Caused by a Novel Mutation in the ELANE Gene-First Report From North Macedonia and a Literature Review: A Case Report.

Zdraveska N et al.

Case Reports in Pediatrics, 2025

Hepatic hemangioendothelioma in an infant with severe congenital neutropenia.

Dinand V et al.

Journal of Pediatric Hematology/oncology, 2012

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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."