Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.H53D
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ELANE

NM_001972.4:p.H53D

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

Description of an ELANE Mutation in a Girl with Severe Congenital Neutropenia: A Paradigm of Targeted Genetic Screening Based on Clinical Findings.

Gogou M et al.

Journal of Pediatric Genetics, 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."