Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.F199del1
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ELANE

NM_001972.4:p.F199del1

Associated Papers

Two rare case reports of familial cyclic neutropenia caused by ELANE gene mutation.

Wang K et al.

Medicine, 2026

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

Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report.

Kim J et al.

Journal of Yeungnam Medical Science, 2023

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

Germeshausen M et al.

Human Mutation, 2013

Four novel ELANE mutations in patients with congenital neutropenia.

Kurnikova M et al.

Pediatric Blood & Cancer, 2011

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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."