Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.Q194*
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ELANE

NM_001972.4:p.Q194*

Associated Papers

Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review.

Xiao Y et al.

Frontiers in Immunology, 2024

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

Clinical, Laboratory, and Molecular Characteristics and Remission Status in Children With Severe Congenital and Non-congenital Neutropenia.

Gong RL et al.

Frontiers in Pediatrics, 2018

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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."