Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.V197insFs
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ELANE

NM_001972.4:p.V197insFs

Associated Papers

Case Report: Heterozygous out-of-frame frameshift variant in ELANE without evidence of neutropenia.

Li Y et al.

Frontiers in Immunology, 2025

Non-Malignant Granulocyte and Monocyte Disorders: An Update.

Ahmad Hilmi SB et al.

British Journal of Biomedical Science, 2025

Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene.

Komvilaisak P et al.

Bmc Pediatrics, 2023

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