Varaico: Literature-Extracted Genetic Variants

Gene:GFI1
Variant:p.R412*
Back to variants list

GFI1

NM_005263.5:p.R412*

Associated Papers

Mouse models of neutropenia reveal progenitor-stage-specific defects.

Muench DE et al.

Nature, 2020

Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.

Venugopal P et al.

Bmc Medical Genetics, 2020

From cytopenia to leukemia: the role of Gfi1 and Gfi1b in blood formation.

Möröy T et al.

Blood, 2015

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.

Xia J et al.

British Journal of Haematology, 2009

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."