Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.V72L
Back to variants list

ELANE

NM_001972.4:p.V72L

Associated Papers

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

Horwitz MS et al.

Hematology/oncology Clinics of North America, 2013

Severe congenital neutropenia and the unfolded protein response.

Xia J et al.

Current Opinion in Hematology, 2008

Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia.

Salipante SJ et al.

Human Mutation, 2007

The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia.

Rezaei N et al.

Journal of Clinical Immunology, 2007

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."