Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.W156C
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ELANE

NM_001972.4:p.W156C

Associated Papers

Targeted inhibition of ELANE expression using adenine base editing to treat severe congenital neutropenia.

Findik B et al.

Molecular Therapy. Methods & Clinical Development, 2025

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

Xiao Y et al.

Frontiers in Immunology, 2024

Spectrum of ELANE mutations in congenital neutropenia: a single-centre study in patients of Indian origin.

Arun AK et al.

Journal of Clinical Pathology, 2018

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry.

Tamary H et al.

Haematologica, 2010

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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."