Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.G214E
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ELANE

NM_001972.4:p.G214E

Associated Papers

Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.

Meng X et al.

Blood Advances, 2024

Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies.

Kojima D et al.

The Journal of Allergy and Clinical Immunology, 2016

Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations.

Shu Z et al.

The Pediatric Infectious Disease Journal, 2015

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

Makaryan V et al.

Current Opinion in Hematology, 2015

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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."