Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.W241*
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ELANE

NM_001972.4:p.W241*

Associated Papers

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

Wang K et al.

Medicine, 2026

Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review.

Xiao Y et al.

Frontiers in Immunology, 2024

Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia.

Ittiwut R et al.

Journal of Clinical Pathology, 2022

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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."