Varaico: Literature-Extracted Genetic Variants

Gene:AZU1
Variant:p.P176R
Back to variants list

AZU1

NM_001700.5:p.P176R

Associated Papers

ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology.

Horwitz MS et al.

Hematology/oncology Clinics of North America, 2013

Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.

Ancliff PJ et al.

Blood, 2001

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."