Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.L180delFs
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ELANE

NM_001972.4:p.L180delFs

Associated Papers

The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.

Bąbol-Pokora K et al.

Frontiers in Immunology, 2025

41383606 (PubMed )
Supplement: Table1.xlsx › Arkusz1

A high prevalence of neutrophil-specific antibodies in ELANE-mutated severe congenital neutropenia.

Dobrewa W et al.

Pediatric Blood & Cancer, 2023

Management of tooth extraction in a patient with ELANE gene mutation-induced cyclic neutropenia: A case report.

Aota K et al.

Medicine, 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."