Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.G214*
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ELANE

NM_001972.4:p.G214*

Associated Papers

Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.

Godinez-Zamora GF et al.

Frontiers in Immunology, 2025

Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.

Jeong D et al.

Scientific Reports, 2022

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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."