Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.C55S
Back to variants list

ELANE

NM_001972.4:p.C55S

Associated Papers

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

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

Makaryan V et al.

Current Opinion in Hematology, 2015

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia.

Carlsson G et al.

British Journal of Haematology, 2012

Uncommon cause of recurrent infections.

Deotare UR et al.

Indian Journal of Medical and Paediatric Oncology : Official Journal of Indian Society of Medical & Paediatric Oncology, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."