Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.F218L
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ELANE

NM_001972.4:p.F218L

Associated Papers

Non-Malignant Granulocyte and Monocyte Disorders: An Update.

Ahmad Hilmi SB et al.

British Journal of Biomedical Science, 2025

Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.

Kuehn JC et al.

Npj Precision Oncology, 2024

39143272 (PubMed )
Supplement: 41698_2024_674_MOESM2_ESM.xlsx › Supplementary_Data_3

In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis.

Shinwari K et al.

Thescientificworldjournal, 2022

Deciphering the Genetics of Primary Angioedema with Normal Levels of C1 Inhibitor.

Loules G et al.

Journal of Clinical Medicine, 2020

33114181 (PubMed )
Supplement: jcm-09-03402-s001.zip › jcm-959403-supplementary.xlsx › Table_S2
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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."