Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.A57S
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ELANE

NM_001972.4:p.A57S

Associated Papers

De Novo Missense Variant c.170 C > A of ELANE in a Chinese Infant with Congenital Neutropenia: Case Report and Literature Review.

Chen X et al.

Journal of Clinical Immunology, 2025

Cyclic Neutropenia From a Novel Mutation Ala57Asp of ELANE: Phenotypic Variability in Neutropenia From Mutated Ala57 Residue.

Park CH et al.

Journal of Pediatric Hematology/oncology, 2020

Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (ELANE) mutation.

van de Vosse E et al.

Annals of Hematology, 2011

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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."