Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.E250K
Back to variants list

ELANE

NM_001972.4:p.E250K

Associated Papers

Utility of a targeted next-generation sequencing-based genetic screening panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome.

Kışla Ekinci RM et al.

Archives of Rheumatology, 2023

Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne).

Demidowich AP et al.

Arthritis and Rheumatism, 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."