Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.P42L
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ELANE

NM_001972.4:p.P42L

Associated Papers

Cyclic neutropenia: a case report and literature review.

Li JL et al.

American Journal of Translational Research, 2025

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 caused by ELANE gene mutation: A case report and literature review.

Wang J et al.

Medicine, 2022

Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin.

Arun AK et al.

Journal of Clinical Pathology, 2018

Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.

Thusberg J et al.

Human Mutation, 2006

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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."