Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.R193_A195del3
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ELANE

NM_001972.4:p.R193_A195del3

Associated Papers

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

Wang K et al.

Medicine, 2026

[A case report of cyclic neutropenia caused by novel double ELANE gene mutations].

Liu J et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018

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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."