Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.I60T
Back to variants list

ELANE

NM_001972.4:p.I60T

Associated Papers

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

Xiao Y et al.

Frontiers in Immunology, 2024

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

Case report: Five-year periodontal management of a patient with two novel mutation sites in ELANE-induced cyclic neutropenia.

Lao Z et al.

Frontiers in Genetics, 2022

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

Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.

Thusberg J et al.

Human Mutation, 2006

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."