Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.R220fs
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ELANE

NM_001972.4:p.R220fs

Associated Papers

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

Paternal Somatic Mosaicism of a Novel Frameshift Mutation in ELANE Causing Severe Congenital Neutropenia.

Kim HJ et al.

Pediatric Blood & Cancer, 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."