Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.I60F
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ELANE

NM_001972.4:p.I60F

Associated Papers

Inducible pluripotent stem cell models to study bone marrow failure and MDS predisposition syndromes.

Sahoo SS et al.

Experimental Hematology, 2025

Truncated CSF3 receptors induce pro-inflammatory responses in severe congenital neutropenia.

Olofsen PA et al.

British Journal of Haematology, 2023

PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations.

Olofsen PA et al.

Blood Advances, 2021

Malignant Transformation Involving CXXC4 Mutations Identified in a Leukemic Progression Model of Severe Congenital Neutropenia.

Olofsen PA et al.

Cell Reports. Medicine, 2020

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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."