Varaico: Literature-Extracted Genetic Variants

Gene:ELANE
Variant:p.A131T
Back to variants list

ELANE

NM_001972.4:p.A131T

Associated Papers

[Congenital neutropenia: a clinical case report].

Jiménez-Covarrubias S et al.

Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 2025

[Clinical and genetic analysis of four patients with congenital neutropenia].

Zhu H et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.

Germeshausen M et al.

Human Mutation, 2013

Four novel ELANE mutations in patients with congenital neutropenia.

Kurnikova M et al.

Pediatric Blood & Cancer, 2011

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."