Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.W156R
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ELANE

NM_001972.4:p.W156R

Associated Papers

The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.

Bąbol-Pokora K et al.

Frontiers in Immunology, 2025

41383606 (PubMed )
Supplement: Table1.xlsx › Arkusz1

Mutant allele knockout with novel CRISPR nuclease promotes myelopoiesis in ELANE neutropenia.

Sabo P et al.

Molecular Therapy. Methods & Clinical Development, 2022

35795780 (PubMed )
Supplement: mmc1.pdf

Clinical characteristics of severe congenital neutropenia caused by novel ELANE gene mutations.

Shu Z et al.

The Pediatric Infectious Disease Journal, 2015

The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.

Makaryan V et al.

Current Opinion in Hematology, 2015

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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."