Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.A233P
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ELANE

NM_001972.4:p.A233P

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

Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia.

Savage SA et al.

Seminars in Hematology, 2017

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

Germeshausen M et al.

Human Mutation, 2013

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

Ishikawa N et al.

Journal of Medical Genetics, 2008

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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."